Random Topics Flashcards

Question

What laboratory findings are often associated with IDA?

Answer 1

* Anisocytosis (varied size of RBCs) * Poikilocytosis (varied shape of RBCs) * Thrombocytosis ## Footnote These findings help in diagnosing IDA.

Answer 2

* Asymptomatic * Irritability * Decreased appetite * Fatigue * Pallor in conjunctivae and palmar creases * Glossitis ## Footnote Symptoms can vary widely among patients.

Answer 3

4-6 mg elemental iron/kg/d divided 1-4 times daily ## Footnote Treatment should continue for 2-3 months after hemoglobin levels return to normal.

Answer 4

Skin, gastrointestinal tract, central nervous system, immune system, skeletal system, reproductive system ## Footnote Zinc deficiency can lead to complications such as rashes and diarrhea in children.

Answer 5

Anemia, neurocognitive impairments ## Footnote Vitamin B12 is crucial for red blood cell formation and neurological function.

Answer 6

No, it is extremely rare ## Footnote Vitamin A deficiency can lead to night blindness.

Answer 7

Bruising, prolonged bleeding, poor wound healing ## Footnote Vitamin C is important for collagen synthesis and immune function.

Answer 8

Daytime enuresis ## Footnote Daytime enuresis indicates potential underlying lower urinary tract dysfunction.

Answer 9

Potential underlying lower urinary tract dysfunction ## Footnote This includes anatomical, neurological, or functional urinary disorders.

Answer 10

* Suspected underlying medical conditions * Presence of lower urinary tract symptoms * Refractory to first-line treatments * Nightly enuresis * Significant psychological distress * Need for further investigations ## Footnote Symptoms include increased or decreased voiding frequency, urgency, hesitancy, straining, weak or intermittent urinary stream, post-void dribbling, and genital or lower urinary tract pain.

Answer 11

False ## Footnote Daytime enuresis suggests potential underlying issues that need to be addressed.

Answer 12

urgency ## Footnote These symptoms are important for assessing urinary dysfunction.

Answer 13

Referral to a urologist ## Footnote This indicates that further evaluation and intervention may be necessary.

Answer 14

Significant psychological distress ## Footnote Psychological factors can impact urinary function and management.

Answer 15

* Urodynamics * Neuroimaging ## Footnote These tests help in understanding the underlying causes of urinary dysfunction.

Answer 16

Devastating effects including profound neurocognitive problems and inability for independent living ## Footnote Cranial radiation can significantly impact cognitive development in very young children.

Answer 17

Dose-dependent risk of infertility ## Footnote Higher doses increase the risk of infertility for pediatric cancer patients.

Answer 18

Complete cryopreservation of sperm ## Footnote This is recommended if the family chooses to preserve fertility.

Answer 19

Chronic white matter changes on MRI ## Footnote These changes can increase the risk of attention-deficit/hyperactivity disorder.

Answer 20

No, they are not at greater risk than the rest of the population ## Footnote Data does not suggest an increased risk of brain tumors.

Answer 21

Thyroid cancer, heart failure, pulmonary fibrosis ## Footnote Their risk of bone tumors is not increased.

Answer 22

Peripheral neuropathies such as foot drop ## Footnote Treatment by a physical therapist may be required for these neuropathies.

Answer 23

No, vincristine does not cause hearing loss ## Footnote It is important to differentiate between the effects of different chemotherapeutic agents.

Answer 24

Marfan syndrome ## Footnote Marfan syndrome is characterized by various physical abnormalities affecting the skeletal and ocular systems.

Answer 25

* Scoliosis * Arachnodactyly * Pectus deformities * Flat feet * Hammer toes ## Footnote These abnormalities are common manifestations of Marfan syndrome.

Answer 26

Myopia ## Footnote Myopia is a common vision problem that can worsen due to lens dislocation.

Answer 27

Supertemporal direction ## Footnote Lens dislocation is a significant ocular finding in Marfan syndrome.

Answer 28

Spontaneous pneumothorax ## Footnote Patients with Marfan syndrome are at increased risk for this condition.

Answer 29

* Aortic regurgitation * Mitral valve prolapse * Aneurysm and dissection of the ascending aorta ## Footnote These complications arise from structural issues in connective tissue.

Answer 30

Decrescendo diastolic murmur ## Footnote This murmur indicates backflow of blood into the heart.

Answer 31

Dilation of the aortic root ## Footnote This dilation can lead to severe cardiovascular complications.

Answer 32

Autosomal dominant disorder ## Footnote This means that only one copy of the mutated gene is necessary for the disorder to manifest.

Answer 33

Mutation on chromosome 15 encoding fibrillin-1 ## Footnote Fibrillin-1 is crucial for the structural integrity of connective tissue.

Answer 34

No ## Footnote Ventricular septal defects are more typically isolated findings in other genetic conditions.

Answer 35

Enlarged right atrium with displaced tricuspid leaflets ## Footnote This anomaly affects the structure and function of the heart.

Answer 36

Bicuspid aortic valve ## Footnote This association is significant in understanding congenital heart defects.

Answer 37

Turner syndrome ## Footnote Turner syndrome is a chromosomal disorder affecting females.

Answer 38

Hypertrophic cardiomyopathy ## Footnote This condition can lead to obstructive heart issues.

Answer 39

Addison disease ## Footnote Primary adrenal insufficiency is often caused by autoimmune destruction of the adrenal glands.

Answer 40

Increased production of pituitary corticotropic hormone (ACTH) ## Footnote ACTH is derived from the cleavage of POMC (proopiomelanocortin).

Answer 41

POMC (proopiomelanocortin) ## Footnote POMC is cleaved to form ACTH, ß-lipoprotein, and y-MSH.

Answer 42

a-MSH and y-MSH ## Footnote Both forms contribute to hyperpigmentation, with a-MSH being particularly significant.

Answer 43

Cortisol and aldosterone deficiency ## Footnote These deficiencies lead to various clinical symptoms and metabolic changes.

Answer 44

* Fatigue * Malaise * Weight loss * Nausea * Vomiting * Hypotension ## Footnote These symptoms can significantly affect the patient's quality of life.

Answer 45

Decreases cardiac output and vascular tone ## Footnote This can lead to orthostatic hypotension or shock.

Answer 46

* Hypovolemia * Hyponatremia * Hyperkalemia ## Footnote These imbalances can lead to serious health issues.

Answer 47

Metabolic acidosis and ketosis ## Footnote These conditions can be exacerbated by symptoms like anorexia, nausea, and vomiting.

Answer 48

Peaked T waves and increased PR interval ## Footnote These changes are indicative of electrolyte disturbances.

Answer 49

Physiologic steroid replacement with glucocorticoids and mineralocorticoids ## Footnote Common glucocorticoids include hydrocortisone, prednisone, and dexamethasone; fludrocortisone acetate is a mineralocorticoid.

Answer 50

During times of stress ## Footnote This is important to manage physiological demands on the body.

Answer 51

gradual ## Footnote This can lead to confusion with prolonged episodes of gastroenteritis.

Answer 52

Wilson disease (hepatolenticular degeneration) ## Footnote Wilson disease is characterized by excessive deposition of copper in various organs.

Answer 53

Nausea, vomiting, and jaundice ## Footnote Jaundice is the most common skin finding in Wilson disease.

Answer 54

Jaundice ## Footnote Generalized hyperpigmentation is not common in Wilson disease.

Answer 55

Diabetes insipidus (DI) ## Footnote AVP disorder can lead to hypernatremia.

Answer 56

Weight loss, dehydration, polyuria, and polydipsia ## Footnote Patients with AVP disorder often experience significant thirst due to polyuria.

Answer 57

Significant polydipsia ## Footnote Polydipsia occurs in patients who have an intact thirst mechanism.

Answer 58

False ## Footnote AVP disorder does not have hyperpigmentation as a symptom.

Answer 59

copper ## Footnote Excessive copper deposition is a hallmark of Wilson disease.

Answer 60

An ascending flaccid paralysis that usually follows an antecedent illness, typically an upper respiratory illness or gastroenteritis ## Footnote It is an acute inflammatory demyelinating polyradiculopathy that is symmetric in presentation.

Answer 61

Distal paresthesias followed by weakness ## Footnote The course usually progresses for up to 4 weeks and then resolves over the next 2-4 weeks.

Answer 62

Most children are ambulatory within 6 months after onset of symptoms.

Answer 63

Cranial nerves can be affected but generally spare the extraocular nerves.

Answer 64

Decreased proprioception and loss of reflexes.

Answer 65

Pain and temperature sensations.

Answer 66

As a descending paralysis that tends to involve the extraocular muscles.

Answer 67

Blurred vision followed by difficulty with swallowing.

Answer 68

Dry mouth and hypotensive symptoms.

Answer 69

Progressive distal ascending weakness manifesting as foot drop and pes cavus.

Answer 70

Hereditary motor sensory neuropathy.

Answer 71

The acute onset of symptoms points against CMT.

Answer 72

An asymmetric pathology of peripheral nerves that is typically painful.

Answer 73

* Diabetes mellitus * Amyloidosis * Rheumatoid arthritis * Systemic lupus erythematosus

Answer 74

Involvement in 2 separate nerve areas.

Answer 75

Muscle weakness and atrophy.

Answer 76

Clumsiness, proximal muscle weakness, and calf pseudohypertrophy.

Answer 77

Gowers sign.

Answer 78

Well-circumscribed, bright red erythema in the perianal area that is tender and moist ## Footnote Often associated with a purulent discharge and/or whitish pseudomembrane.

Answer 79

Streptococcus pyogenes (group A B-hemolytic Streptococcus [GABHS]) ## Footnote Commonly associated with skin infections.

Answer 80

Warm, painful, superficial cellulitis with a well-defined, reddened, infiltrated plaque-like lesion ## Footnote Erysipelas is a specific type of skin infection.

Answer 81

Painful defecation and blood-streaked stools when unable to avoid defecation ## Footnote Patients may intentionally withhold stool due to pain.

Answer 82

Females: vulvovaginitis; Males: balanoposthitis ## Footnote These conditions can occur in conjunction with perianal dermatitis.

Answer 83

Oral penicillin-VK or amoxicillin ## Footnote Treatment leads to prompt resolution of symptoms.

Answer 84

Eczematous dermatitis ## Footnote Eczematous dermatitis is often observed in individuals with EFAD.

Answer 85

Low levels of linoleic acid (and a-linolenic acid) sufficient to alter fatty acid metabolism ## Footnote EFAD is characterized by these low levels affecting the body's fatty acid metabolism.

Answer 86

There is a decrease in arachidonic acid levels ## Footnote This decrease is a biochemical marker of EFAD.

Answer 87

Reduced growth velocity, delayed neurodevelopment, scaly dermatitis, increased susceptibility to infection ## Footnote These manifestations highlight the systemic impact of fatty acid deficiency.

Answer 88

Children with cystic fibrosis, infants with hepatobiliary disease ## Footnote These conditions can impact nutrient absorption and metabolism.

Answer 89

Any child or infant on parenteral hyperalimentation that does not include lipids or whose diet lacks sufficient fatty acids ## Footnote Parenteral nutrition without lipids can lead to EFAD.

Answer 90

Absent menses for > 3 months in adolescents with regular cycles or for 6 months in those with irregular cycles. ## Footnote It indicates a disruption in the menstrual cycle that may require further evaluation.

Answer 91

Pregnancy. ## Footnote Other potential causes may include hormonal imbalances, stress, weight changes, and medical conditions.

Answer 92

Hypothalamus (35%) ## Footnote Almost all cases are due to functional hypothalamic amenorrhea

Answer 93

13% ## Footnote Hyperprolactinemia is a condition characterized by elevated levels of prolactin

Answer 94

Postpartum hypopituitarism (1.5%) ## Footnote It occurs due to pituitary gland failure following severe blood loss during or after childbirth

Answer 95

Polycystic ovary syndrome (PCOS) ## Footnote PCOS is a hormonal disorder causing enlarged ovaries with cysts

Answer 96

10% ## Footnote Formerly known as premature ovarian failure

Answer 97

7% ## Footnote Intrauterine adhesions can lead to uterine dysfunction affecting menstrual cycles

Answer 98

1% ## Footnote Cushing syndrome is caused by excess cortisol in the body

Answer 99

Pituitary ## Footnote An empty sella refers to an empty sella turcica on imaging, affecting pituitary function

Answer 100

The lack of menses by 15 years of age with normal growth and secondary sexual characteristics, by 13 years of age with complete absence of secondary sexual characteristics, or more than 3 years after initial breast development.

Answer 101

Genetic or anatomical abnormality.

Answer 102

By 15 years of age.

Answer 103

By 13 years of age.

Answer 104

More than 3 years after initial breast development.

Answer 105

MRI of the sella ## Footnote MRI stands for Magnetic Resonance Imaging, a technique used for detailed imaging of internal structures.

Answer 106

Pituitary tumor ## Footnote Secondary amenorrhea refers to the absence of menstruation for three cycles or more in a woman who has previously had regular cycles.

Answer 107

* Headache * Galactorrhea ## Footnote Galactorrhea is the production of breast milk in individuals who are not breastfeeding or pregnant.

Answer 108

Visual field defects ## Footnote The optic chiasm is the part of the brain where the optic nerves cross, and compression can lead to various visual disturbances.

Answer 109

True ## Footnote Symptoms such as headache and galactorrhea can also be present.

Answer 110

The production of breast milk in individuals who are not breastfeeding or pregnant ## Footnote Galactorrhea can be a symptom of hormonal imbalances, including those caused by pituitary tumors.

Answer 111

The pituitary tumor may be asymptomatic except for amenorrhea ## Footnote Not all patients with pituitary tumors exhibit a wide range of symptoms.

Answer 112

Elevated testosterone levels (especially free testosterone) ## Footnote Hyperandrogenism is a key feature of PCOS

Answer 113

Elevated LH:FSH ratio ## Footnote This ratio is important for diagnosing PCOS

Answer 114

Irregular menses, symptoms or biochemical evidence of hyperandrogenism ## Footnote Hyperandrogenism can manifest as hirsutism and acne

Answer 115

Bilateral enlarged polycystic ovaries ## Footnote This finding can be confirmed via ultrasound

Answer 116

Obesity and insulin resistance ## Footnote These conditions can exacerbate symptoms of PCOS

Answer 117

Yes ## Footnote PCOS can manifest without these common symptoms

Answer 118

50th percentile ## Footnote This indicates that the patient is not obese

Answer 119

To evaluate bone mineral density in patients suspected of having relative energy deficiency in sport. ## Footnote Relative energy deficiency in sport was formerly known as female athlete triad.

Answer 120

Disordered eating, irregular menses or amenorrhea, and osteopenia. ## Footnote Osteopenia refers to lower than normal bone mineral density.

Answer 121

Females involved in competitive sports where low body weight is favorable. ## Footnote Examples include ballet, gymnastics, running, and figure skating.

Answer 122

Loss of pulsatile GRH secretion from the hypothalamus, leading to low LH and FSH and estrogen deficiency.

Answer 123

Irregular menses and recurrent stress fractures in females involved in competitive sports.

Answer 124

osteopenia.

Answer 125

It occurs in females who exercise to the point of caloric deficit.

Answer 126

This disorder can occur in those with normal weight, even if the patient does not exercise excessively.

Answer 127

Upper airway cough syndrome ## Footnote This condition is triggered by chronic postnasal drip.

Answer 128

* Allergic rhinitis * Nonallergic rhinitis * Chronic rhinosinusitis ## Footnote These conditions can lead to chronic postnasal drip, which triggers cough.

Answer 129

Based on response to treatment ## Footnote Symptoms and signs are nonspecific, making treatment response a key diagnostic criterion.

Answer 130

* Intranasal corticosteroid (e.g., triamcinolone) * Intranasal ipratropium ## Footnote These treatments help reduce inflammation and mucus production.

Answer 131

Within 1-2 weeks ## Footnote Prompt improvement is a positive sign of effective treatment.

Answer 132

upper airway cough syndrome ## Footnote This condition is often associated with postnasal drip.

Answer 133

A condition often silent, with only about 1/3 of patients experiencing heartburn

Answer 134

Upper esophageal sphincter

Answer 135

Symptoms occur mainly when patients are upright during physical exertion

Answer 136

When lying down

Answer 137

Rhinitis symptoms

Answer 138

upper esophageal sphincter

Answer 139

Paradoxical vocal fold dysfunction ## Footnote Inducible laryngeal obstruction is often referred to by this alternative name.

Answer 140

Dyspnea ## Footnote Dyspnea is characterized by difficulty breathing.

Answer 141

False ## Footnote The most common symptom is dyspnea, not chronic cough.

Answer 142

* Throat tightness * Dysphagia * Dysphonia * Stridor ## Footnote These symptoms can accompany dyspnea in patients with this condition.

Answer 143

Vitamin B3, nicotinic acid

Answer 144

* Dermatitis * Dementia * Diarrhea

Answer 145

Growth faltering is defined as a cessation of weight gain after a period of stable growth resulting in weight < 3rd percentile for age, weight for height < 5th percentile, or rapid decline in growth, crossing 2 major percentile curves in a short time. ## Footnote Growth faltering is a significant indicator of potential health issues in children.

Answer 146

Weight < 3rd percentile for age ## Footnote This indicates that the child's weight is significantly lower than most peers of the same age.

Answer 147

Weight for height < 5th percentile ## Footnote This shows that the child's weight is not proportional to their height.

Answer 148

Crossing 2 major percentile curves in a short time ## Footnote This suggests a concerning change in the child's growth pattern.

Answer 149

A condition characterized by normal birth weight and height, followed by slowed growth in early childhood and normal growth velocity later. ## Footnote Also known as constitutional growth delay.

Answer 150

A period of slowed growth during the first 2-3 years of life. ## Footnote This slowed growth is a key feature of the condition.

Answer 151

Normal growth velocity after the initial slowed growth period. ## Footnote This pattern can lead to delayed puberty.

Answer 152

Final adult height is typically within the normal range. ## Footnote This outcome is common despite the initial growth delay.

Answer 153

False. ## Footnote Individuals typically experience slowed growth initially.

Answer 154

slowed growth. ## Footnote This is a defining feature of the condition.

Answer 155

Delayed puberty. ## Footnote This is often linked to the growth pattern observed in CDGP.

Answer 156

Familial short stature ## Footnote This term indicates that the condition is hereditary and related to family height patterns.

Answer 157

At a normal rate but follow a growth curve below the 5th percentile ## Footnote This means their height is normal for their family but shorter compared to the general population.

Answer 158

The height patterns of their parents ## Footnote This similarity indicates a genetic link to short stature.

Answer 159

Immune thrombocytopenia (ITP) ## Footnote ITP is characterized by macrothrombocytes and high mean platelet volume with no other changes in the peripheral smear.

Answer 160

Sudden onset of widespread petechiae and purpura ## Footnote These symptoms occur in the absence of findings typically associated with leukemia.

Answer 161

Wiskott-Aldrich syndrome ## Footnote Patients typically present with low mean platelet volume.

Answer 162

White blood cell inclusions seen in May-Hegglin anomaly ## Footnote May-Hegglin anomaly is an inherited platelet disorder associated with thrombocytopenia.

Answer 163

Schistocytes are seen in thrombotic thrombocytopenic purpura ## Footnote They may also appear in disseminated intravascular coagulation (DIC) and other diagnoses.

Answer 164

Toxic granulations ## Footnote These granulations are a response to the underlying condition of disseminated intravascular coagulation.

Answer 165

arginine vasopressin deficiency ## Footnote Also known as central diabetes insipidus.

Answer 166

Wolfram syndrome ## Footnote Wolfram syndrome is also associated with diabetes mellitus, optic atrophy, and deafness.

Answer 167

Decreased release of arginine vasopressin from the posterior pituitary.

Answer 168

polyuria, polydipsia, nocturia.

Answer 169

1-desamino-8-D-arginine vasopressin (synthetic AVP).

Answer 170

Increases urine osmolality and improves symptoms.

Answer 171

antidiuretic hormone (ADH).

Answer 172

optic atrophy.

Answer 173

Primary polydipsia ## Footnote Primary polydipsia is a disorder where excessive thirst leads to increased fluid intake, resulting in significant urine production.

Answer 174

By a low serum sodium and low serum osmolality ## Footnote Serum sodium and osmolality levels are critical in differentiating between these conditions.

Answer 175

Elevated serum sodium and serum osmolality ## Footnote AVP-R refers to arginine vasopressin resistance, where the body does not respond properly to vasopressin.

Answer 176

Low urine osmolality (< 300 mOsm/kg) ## Footnote This low urine osmolality indicates that the kidneys are not concentrating urine effectively.

Answer 177

Urine osmolality remains < 300 mOsm/kg ## Footnote This lack of response is due to impaired action of AVP at the collecting duct level.

Answer 178

Benign rolandic epilepsy or benign epilepsy with centrotemporal spikes (BECTS) ## Footnote BECTS is a common form of childhood epilepsy characterized by specific EEG patterns.

Answer 179

Centrotemporal sharp waves (or spikes) on the left and the right ## Footnote This EEG pattern is a key diagnostic feature of benign epilepsy with centrotemporal spikes.

Answer 180

By puberty ## Footnote The prognosis for children with BECTS is generally favorable, with many outgrowing the condition.

Answer 181

Many do not treat BECTS with antiseizure drugs if the episodes are infrequent and occur only at night ## Footnote Treatment decisions often depend on the frequency and timing of seizures.

Answer 182

False ## Footnote Most children will outgrow BECTS, making it a benign condition.

Answer 183

Absence seizures ## Footnote Typically manifest as staring episodes with behavioral arrest.

Answer 184

4-6 Hz polyspike and wave ## Footnote Typically presents in adolescence.

Answer 185

Occipital sharp waves

Answer 186

Infantile spasms

Answer 187

0.5 mL hepatitis B immunoglobulin (HBIG) and monovalent hepatitis B (HepB) vaccine within 12 hours of birth ## Footnote This intervention is crucial to prevent chronic hepatitis B infection.

Answer 188

2nd and 3rd doses of monovalent Hep B vaccine at 1-2 months and 6 months of age, respectively ## Footnote A total of 4 doses is acceptable if a hepatitis B-containing combination vaccine is used.

Answer 189

3 additional doses at 1, 2-3, and 6 months of age, or at 2, 4, and 6 months with a combination vaccine ## Footnote Single-antigen (monovalent) HBV is recommended.

Answer 190

Most infants will develop chronic hepatitis B infection and remain at increased risk of hepatocellular carcinoma ## Footnote Early intervention is critical to prevent these outcomes.

Answer 191

At 9-12 months of age or 1-2 months after the last dose of HepB vaccine if immunization is delayed ## Footnote This testing includes HBsAg and antibody to HBsAg (anti-HBs).

Answer 192

Anti-HBs titers < 10 mlU/mL after completing the 3 (or 4) dose vaccine series ## Footnote Nonimmune infants require revaccination and retesting.

Answer 193

They are considered immune and do not require further doses ## Footnote This indicates successful immunization.

Answer 194

Receive 2 more doses of vaccine separated by at least 8 weeks ## Footnote Alternatively, revaccination with an entire 3-dose series is an option.

Answer 195

Additional vaccine doses are not recommended ## Footnote This indicates that the individual is unlikely to respond to further vaccination.

Answer 196

Meconium ileus is characterized by failure to pass meconium, abdominal distention, and intestinal obstruction caused by impaction of thick, tenacious meconium in the distal small bowel. ## Footnote It is a significant condition in neonates and often indicates underlying cystic fibrosis.

Answer 197

80%-90% ## Footnote Cystic fibrosis is an exocrine gland disorder that affects multiple systems, primarily the respiratory and digestive systems.

Answer 198

Malabsorption of fats, proteins, fat-soluble vitamins, and, to a lesser extent, carbohydrates. ## Footnote This malabsorption leads to growth faltering and other digestive issues.

Answer 199

Frequent, bulky, poorly formed, foul-smelling, and greasy stools. ## Footnote These stool characteristics are indicative of malabsorption.

Answer 200

Gas mixed with meconium results in a 'soap bubble' or ground glass appearance. ## Footnote This appearance is characteristic of meconium ileus and helps in diagnosis.

Answer 201

Small bowel distention and an absence or a paucity of air-fluid levels. ## Footnote These findings indicate obstruction and help differentiate meconium ileus from other conditions.

Answer 202

Microcolon and meconium pellets distending the distal ileum. ## Footnote The microcolon indicates underused bowel, which is a common finding in cystic fibrosis.

Answer 203

Abdominal wall erythema and edema, which may cause respiratory distress. ## Footnote Severe abdominal distention can lead to complications such as respiratory difficulties.

Answer 204

meconium ileus ## Footnote Early identification of meconium ileus can lead to timely diagnosis and management of cystic fibrosis.

Answer 205

Biliary atresia ## Footnote Jaundice is the first sign of biliary atresia.

Answer 206

Jaundice ## Footnote Indicates liver dysfunction and bile accumulation.

Answer 207

Imperforate anus ## Footnote It is not associated with a 'soap bubble' appearance of portions of the intestine.

Answer 208

'Double bubble' gas shadow ## Footnote Indicates proximal obstruction in the duodenum.

Answer 209

Duodenal atresia ## Footnote Seen on plain abdominal radiograph.

Answer 210

Intestinal malrotation ## Footnote Infants often present with bilious emesis and acute bowel obstruction.

Answer 211

Multiple loops of dilated bowel with air-fluid levels ## Footnote A 'soap bubble' appearance is not seen in this condition.

Answer 212

Duodenojejunal flexure to the right of the expected location ## Footnote Proximal jejunal loops lying abnormally on the right side of the abdomen.

Answer 213

Intestinal malrotation ## Footnote Suggests abnormal positioning of the intestine.

Answer 214

False ## Footnote This appearance is not characteristic of intestinal malrotation.

Answer 215

Screening with a urine albumin-to-creatinine ratio (UACR) test at the initial diagnosis of DM Type 2 and 5 years after the initial diagnosis of DM Type 1 ## Footnote Yearly screenings should then be performed.

Answer 216

Lacks sensitivity to detect moderately increased albuminuria ## Footnote Moderately increased albuminuria is the earliest finding in diabetic kidney disease.

Answer 217

It allows intervention with improved diabetic control, weight loss, and/or use of an angiotensin-converting enzyme inhibitor ## Footnote These interventions can slow progression of or even reverse diabetic kidney disease.

Answer 218

An increase in serum creatinine ## Footnote This would not be an appropriate screening test at this time.

Answer 219

Abrupt onset of fever, chills, headache, myalgia, and generalized malaise following an incubation period of 3-5 days ## Footnote Tularemia is caused by the bacterium Francisella tularensis.

Answer 220

Ulceroglandular syndrome ## Footnote This includes a maculopapular lesion at the site of the tick bite.

Answer 221

Maculopapular lesion, ulceration, painful inflamed regional lymph nodes ## Footnote The lesion at the tick bite site ulcerates and heals slowly.

Answer 222

Regional lymphadenopathy without an ulcer ## Footnote It can occur in tularemia cases.

Answer 223

Oculoglandular tularemia ## Footnote It is characterized by irritation and inflammation of the conjunctiva.

Answer 224

Pharyngitis, oral ulcers, cervical lymphadenopathy ## Footnote It occurs following ingestion of contaminated food or water.

Answer 225

Acute lower respiratory tract symptoms ## Footnote This form follows inhalation of the organism.

Answer 226

Wild or domesticated animals, ticks, deerflies, contaminated soil/water ## Footnote Ticks and rabbits are major sources of human infection.

Answer 227

Hunters, trappers, individuals exposed to ticks ## Footnote These individuals are more likely to come into contact with infected animals.

Answer 228

Gentamicin, amikacin, streptomycin, ciprofloxacin, doxycycline ## Footnote Gentamicin, amikacin, or streptomycin are used for severe cases, while ciprofloxacin or doxycycline are for milder illness.

Answer 229

Proper protective clothing, tick repellents, avoidance of handling dead animals, use of rubber gloves ## Footnote Hunters and trappers should use gloves when skinning and preparing animals.

Answer 230

Rickettsia rickettsii ## Footnote RMSF is transmitted through a tick bite.

Answer 231

* Fever * Chills * Headache * Myalgia * Rash (involving wrists and ankles) ## Footnote RMSF is not commonly associated with ulcerative lesions at the tick bite site.

Answer 232

No ## Footnote This is typically seen with ulceroglandular tularemia.

Answer 233

Catscratch disease ## Footnote This infection is often transmitted through a bite by a kitten.

Answer 234

Papule at the site of a bite ## Footnote This may go unnoticed initially.

Answer 235

Regional enlargement of lymph nodes ## Footnote Most commonly affects epitrochlear or axillary nodes.

Answer 236

* Parinaud oculoglandular syndrome * Systemic fever without a focus * Chorioretinitis * Hepatosplenic abscesses * Encephalitis ## Footnote Parinaud syndrome includes fever, conjunctivitis, and preauricular adenopathy.

Answer 237

Borrelia burgdorferi ## Footnote Lyme disease is transmitted by an infected tick in endemic areas.

Answer 238

* Fever * Headache * Myalgia * Arthralgia * Arthritis * Meningitis * Carditis ## Footnote Symptoms can vary based on the stage of the illness.

Answer 239

* Erythema chronicum migrans * Maculopapular eruption ## Footnote Ulcerative skin lesions and regional lymphadenopathy are not commonly seen.

Answer 240

* Fever * Headache * Myalgia * Arthralgia * Rash (less common) ## Footnote It is not a prominent cause of ulcerative skin lesions.

Answer 241

* Leukopenia * Thrombocytopenia * Hyponatremia * Elevated hepatic transaminases ## Footnote These findings help in diagnosing ehrlichiosis.

Answer 242

Selective screening for high-risk patients should be completed

Answer 243

Family history of depression or bipolar disorder

Answer 244

* Family history of depression or bipolar disorder * Suicide-related behaviors * Substance use

Answer 245

depression

Answer 246

Frequent somatic complaints

Answer 247

Foster care and adoption

Answer 248

Personal history of previous depressive episodes

Answer 249

It is a high-risk factor for depression

Answer 250

A genetic disorder characterized by progressive muscle weakness.

Answer 251

Progressive muscle weakness, delayed motor milestones, Gower sign, calf hypertrophy, hypotonia.

Answer 252

18 months.

Answer 253

A clinical sign indicative of muscle weakness where a child uses their hands to push up from the floor.

Answer 254

X-linked recessive inheritance.

Answer 255

Carrier females to their sons.

Answer 256

He will exhibit the disease.

Answer 257

Y chromosome.

Answer 258

At any site along the sympathetic nervous system

Answer 259

A firm, fixed, nodular mass in the flank and/or midline

Answer 260

Abdominal pain or fullness

Answer 261

Compression of venous or lymphatic drainage, causing scrotal and lower extremity edema

Answer 262

Acute onset of unilateral or bilateral proptosis and ecchymosis

Answer 263

Long bones, bone marrow, liver, and lymph nodes

Answer 264

A paraneoplastic syndrome of autoimmune origin

Answer 265

Ataxia, rapid and chaotic eye movements, rhythmic jerking

Answer 266

Thoracic neuroblastoma

Answer 267

Defective catecholamine synthesis

Answer 268

Homovanillic acid (HVA), vanillylmandelic acid (VMA), dopamine

Answer 269

They can be measured in the urine for diagnosis and monitoring of disease activity

Answer 270

5/100000 ## Footnote This figure represents the occurrence of minimal change disease in the general population.

Answer 271

Edema – early morning eyelid swelling Ascites ## Footnote This symptom indicates fluid retention often associated with nephrotic syndrome.

Answer 272

* Infections * Thrombotic ## Footnote Thrombotic complications arise due to alterations in coagulation factors.

Answer 273

Low albumin Heavy proteinuria Urine may show oval fat bodies, waxy or hyaline casts Elevated BUN Mild hyponatremia ## Footnote Low serum albumin levels are a hallmark of nephrotic syndrome.

Answer 274

Empiric treatment with corticosteroids ## Footnote Corticosteroids are commonly used to reduce inflammation and proteinuria.

Answer 275

Supportive care ## Footnote Supportive care may include managing symptoms, preventing complications, and monitoring the patient's condition.

Answer 276

Segment of glomerulus collapses with mesangial sclerosis ## Footnote This condition is characterized by scarring in the kidney's filtering units.

Answer 277

Black and Hispanic population ## Footnote This demographic discrepancy is important for diagnosis and treatment considerations.

Answer 278

Hematuria, HTN ## Footnote These symptoms indicate potential kidney issues and require further investigation.

Answer 279

Kidney biopsy ## Footnote This procedure helps confirm the diagnosis by examining kidney tissue.

Answer 280

High dose IV methylprednisone with immunosuppressive agent (tacrolimus, cyclosporine, mycophenolate, cyclophosphamide, rituximab) ## Footnote Immunosuppressive therapy is crucial for managing this condition.

Answer 281

ACEI, ARBs, Statin ## Footnote These medications help manage hypertension and cholesterol levels in affected patients.

Answer 282

Immune deposits (IgG + C3) in the basement membrane or along the subepithelial area of the glomerular capillary wall ## Footnote Membranous nephropathy is a kidney disorder that affects the glomeruli.

Answer 283

Rare in children ## Footnote The incidence of membranous nephropathy is significantly lower in the pediatric population compared to adults.

Answer 284

Autoantibodies ## Footnote These autoantibodies can target various components of the glomerular structure.

Answer 285

* SLE * Hepatitis B * Congenital syphilis * Malaria * Penicillamine or gold therapy * CLL * Lymphoma * Neuroblastoma * SCD ## Footnote Secondary causes refer to conditions that can lead to the development of membranous nephropathy.

Answer 286

Nephrotic syndrome ## Footnote Nephrotic syndrome is characterized by high levels of protein in urine, low levels of protein in blood, swelling, and high cholesterol.

Answer 287

* Kidney biopsy * Tests for autoantibodies * Tests for secondary causes ## Footnote A kidney biopsy can help confirm the diagnosis by showing immune deposits in the glomeruli.

Answer 288

Diarrheal illness due to Shiga toxin producing E coli ## Footnote Other causes include Shigella.

Answer 289

* Microangiopathic hemolytic anemia * Thrombocytopenia * Acute Kidney Injury (AKI) * Increasing pallor * Diarrhea (bloody) * Abdominal pain * Nausea/vomiting * Low grade fever * Neurologic involvement (irritability, lethargy, seizures, coma, stroke)

Answer 290

* Elevated BUN * Elevated creatinine * Microangiopathic hemolytic anemia * Thrombocytopenia

Answer 291

* Stool cultures * Stool PCR for Shiga toxin

Answer 292

Half of children

Answer 293

About 2 weeks

Answer 294

Supportive care

Answer 295

Defect in renal tubular function due to the inability of the kidney to reabsorb HCO3 (proximal) or excrete H+ (distal) ## Footnote Normal serum anion gap (hyperchloremic)

Answer 296

Decreased resorption of HCO3 ## Footnote Causes include young age, immature kidneys, acetazolamide, amphotericin B, heavy metals.

Answer 297

Urine loss of: * Phosphate * K * Amino acids * Glucose * Low molecular weight proteins ## Footnote Presents with failure to thrive (FTT), short stature, feeding intolerance, muscle weakness, rickets.

Answer 298

Low to normal serum K, urine pH less than 5.5, normal anion gap metabolic acidosis ## Footnote Treatment includes bicarbonate, mild thiazide diuretic, Na restriction, NaHCO supplementation, phosphate, K, carnitine, vitamin D, and treating underlying cause.

Answer 299

Decreased H+ excretion ## Footnote Causes include primary genetic disorder, autoimmune conditions, hereditary hypercalciuria, drugs (e.g., amphotericin B, lithium).

Answer 300

Stones (nephrocalcinosis), hypercalciuria, hearing loss, decreased citrate excretion ## Footnote Laboratory findings include low serum K, urine pH greater than 5.5, non-anion gap metabolic acidosis.

Answer 301

Bicarbonate, K replacement, addressing underlying cause ## Footnote Treatment focuses on correcting metabolic acidosis and electrolyte imbalances.

Answer 302

Decreased Na/K exchange in distal tubule, reduced NH3 generation and NH4 excretion ## Footnote Associated with hyperaldosteronism (low renin, low aldosterone, or aldosterone resistance).

Answer 303

Obstructive uropathy, chronic interstitial nephritis, drugs (e.g., NSAIDs, ACEIs, ARBs), spironolactone ## Footnote Characterized by hyperkalemia.

Answer 304

High serum K, urine pH less than 5.5, normal anion gap metabolic acidosis ## Footnote Treatment includes bicarbonate and K restriction.

Answer 305

Hereditary nephritis arising from mutations in genes that encode for type 4 collagen ## Footnote Alport Syndrome primarily affects the kidneys, ears, and eyes.

Answer 306

Mostly X linked ## Footnote This means the condition is often passed from mother to son.

Answer 307

Persistent microscopic hematuria, episodic gross hematuria, proteinuria ## Footnote Hematuria refers to blood in urine, while proteinuria indicates excess protein.

Answer 308

HTN, progressive decline in kidney function ending in ESKD ## Footnote ESKD stands for end-stage kidney disease.

Answer 309

Sensorineural deafness, ocular defects (perimacular pigment changes, lenticonus) ## Footnote Sensorineural deafness refers to hearing loss due to problems in the inner ear or auditory nerve.

Answer 310

FH of hearing loss or ESKD ## Footnote Family history can provide important clues in genetic conditions.

Answer 311

Kidney biopsy – lamellation in the basement membrane ## Footnote Lamellation refers to a layered appearance, which is indicative of the disease.

Answer 312

Genetic testing ## Footnote This can identify specific mutations related to the syndrome.

Answer 313

ACEI, dialysis, transplantation ## Footnote ACEI stands for angiotensin-converting enzyme inhibitors, which help manage blood pressure and kidney function.

Answer 314

Persistent hematuria in multiple family members without a family history of ESKD ## Footnote ESKD stands for End-Stage Kidney Disease.

Answer 315

Abnormality in the gene that encodes type 4 collagen

Answer 316

No treatment necessary

Answer 317

X linked condition ## Footnote Fabry Disease is inherited through the X chromosome.

Answer 318

Alpha galactosidase A ## Footnote This deficiency leads to the accumulation of certain substances in the body.

Answer 319

Kidney, heart, and nervous system ## Footnote These abnormalities can lead to various complications.

Answer 320

Mild to moderate proteinuria and microhematuria ## Footnote These findings are indicative of kidney involvement.

Answer 321

Young adulthood ## Footnote Symptoms may vary in severity and type.

Answer 322

Gradually deteriorates with ESKD in 5th decade of life ## Footnote ESKD stands for End-Stage Kidney Disease.

Answer 323

Enzyme replacement treatment available ## Footnote This treatment can help manage symptoms and complications.

Answer 324

AD ## Footnote AD stands for Autosomal Dominant.

Answer 325

Chromosome 9

Answer 326

Microscopic hematuria and mild proteinuria

Answer 327

* Dystrophic nails * Hypoplasia or absence of the patellae

Answer 328

* Dysplasia of the elbows * Iliac horns

Answer 329

1 in 20,000 live births ## Footnote ARPKD stands for Autosomal Recessive Polycystic Kidney Disease.

Answer 330

PKHD1 gene which encodes fibrocystin ## Footnote Fibrocystin is a protein associated with kidney and liver function.

Answer 331

Bilateral kidney enlargement due to fusiform dilation of the collecting ducts

Answer 332

At birth or before delivery

Answer 333

Echogenic kidneys

Answer 334

A condition of low amniotic fluid, associated with ARPKD

Answer 335

Low set ears, flat nose, and retracted chin

Answer 336

Portal hypertension and esophageal varices with risk of bleeding

Answer 337

* Recurrent UTIs * ESKD * Anemia * Growth failure * CKD-mineral bone disease

Answer 338

Dilation of the biliary tree

Answer 339

To identify mutations and confirm diagnosis

Answer 340

A lack of hereditary transmission in ARPKD cases

Answer 341

Hyperechoic kidneys with a salt and pepper appearance

Answer 342

Control hypertension

Answer 343

Treatment of UTIs

Answer 344

* Dialysis * Kidney transplant

Answer 345

Autosomal Dominant Polycystic Kidney Disease ## Footnote ADPKD is a genetic disorder characterized by the growth of numerous cysts in the kidneys.

Answer 346

1-2 per 1000 live births ## Footnote This indicates how common the condition is among newborns.

Answer 347

Incidental discovery of multiple cysts on imaging ## Footnote Many cases are found during imaging for unrelated reasons.

Answer 348

HTN, abdominal pain, or abdominal masses ## Footnote Hypertension (HTN) is a common symptom in affected children.

Answer 349

Berry aneurysms in the Circle of Willis ## Footnote These aneurysms can lead to serious complications, including hemorrhagic stroke.

Answer 350

Family history of ADPKD ## Footnote ADPKD is inherited in an autosomal dominant pattern.

Answer 351

Genetic testing can confirm the diagnosis of ADPKD ## Footnote It is especially useful in families with a history of the disease.

Answer 352

To assess for hematuria, proteinuria, and HTN ## Footnote Regular monitoring helps manage complications early.

Answer 353

Monitoring kidney function to assess disease progression ## Footnote This may include blood tests and urine tests.

Answer 354

Aggressively with ACEI or ARBs ## Footnote Angiotensin-converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARBs) are commonly used medications.

Answer 355

Vigorous hydration ## Footnote Staying well-hydrated can help maintain kidney function.

Answer 356

Over half ## Footnote Patients with ESKD may require dialysis or kidney transplantation.

Answer 357

end-stage kidney disease (ESKD) ## Footnote ESKD is the final stage of chronic kidney disease where kidneys can no longer function adequately.

Answer 358

A rare tubulointerstitial disorder that leads to end-stage kidney disease (ESKD) ## Footnote Nephronophthisis is often classified as a genetic condition and is primarily seen in juvenile cases.

Answer 359

Autosomal recessive (AR) ## Footnote This inheritance pattern means that two copies of the mutated gene must be present for the disease to manifest.

Answer 360

Polyuria, polydipsia, failure to thrive ## Footnote These symptoms arise due to the kidney's inability to concentrate urine and maintain sodium balance.

Answer 361

Inability to perform horizontal eye movements, retinitis pigmentosa, cerebellar aplasia with coloboma ## Footnote These ocular issues can significantly impact vision and motor coordination.

Answer 362

Poor differentiation between cortical and medullary areas of the kidney, cysts in the corticomedullary border ## Footnote This imaging finding helps in the diagnosis of the condition.

Answer 363

A genetic disorder characterized by benign growths in multiple organs and brain tubers causing seizures and developmental delay ## Footnote TSC has an incidence of approximately 1 in 6000 live births.

Answer 364

Growths can occur in multiple organs including: * Heart * Skin * Lungs * Kidneys ## Footnote These growths are typically non-cancerous.

Answer 365

A benign tumor that can lead to bleeding, malignant transformation, and gradual loss of kidney function ## Footnote AML is a common renal manifestation in patients with Tuberous Sclerosis Complex.

Answer 366

Abdominal MRI at diagnosis and then every 1-3 years ## Footnote This monitoring is essential due to the risk of kidney cysts and AMLs.

Answer 367

Oral mTOR inhibitors, specifically everolimus and sirolimus ## Footnote These medications help manage the size and complications associated with AMLs.

Answer 368

A genetic disorder characterized by obesity, retinitis pigmentosa, hypogenitalism, polydactyly, intellectual disability, and cystic dysplasia of the kidney ## Footnote Bardet-Biedl Syndrome is inherited in an autosomal recessive manner (AR)

Answer 369

Autosomal recessive (AR) ## Footnote This means that two copies of the mutated gene are required for an individual to be affected

Answer 370

* Obesity * Retinitis pigmentosa * Hypogenitalism ## Footnote Additional symptoms include polydactyly, intellectual disability, and cystic dysplasia of the kidney

Answer 371

A genetic disorder that causes progressive degeneration of the retina, leading to vision loss ## Footnote It is one of the key symptoms of Bardet-Biedl Syndrome

Answer 372

Underdevelopment or absence of the genital organs ## Footnote This condition can be associated with Bardet-Biedl Syndrome

Answer 373

A condition characterized by the presence of extra fingers or toes ## Footnote This is another symptom observed in individuals with Bardet-Biedl Syndrome

Answer 374

Intellectual disability ## Footnote This is one of the features associated with the syndrome

Answer 375

A developmental disorder characterized by cyst formation in the kidneys ## Footnote It is one of the symptoms of Bardet-Biedl Syndrome

Answer 376

Treat symptoms and manage progressive kidney disease ## Footnote There is no cure for the syndrome, so treatment focuses on alleviating symptoms

Answer 377

Insidious onset

Answer 378

Elevated creatinine

Answer 379

Sterile pyuria

Answer 380

Minimal hematuria/proteinuria

Answer 381

Normal blood pressure

Answer 382

Inflammatory infiltrate in the interstitium ## Footnote This condition involves inflammation of the kidney's interstitial tissue, which can lead to impaired kidney function.

Answer 383

* Drug induced hypersensitivity (antibiotics, NSAIDs, cimetidine, thiazides, phenytoin, allopurinol) * Sarcoidosis * SLE * Infection (pyelonephritis) * Transplant rejection ## Footnote Drug-induced causes are not dependent on the dose and may lead to acute interstitial nephritis.

Answer 384

Typically occurs 1 week after drug exposure ## Footnote This timeframe is important for identifying the cause of the condition.

Answer 385

* Typically ingested for months before symptoms develop * Rash, fever, and eosinophilia may not occur * May have nephrotic-range proteinuria ## Footnote NSAID use can lead to delayed symptom development, complicating diagnosis.

Answer 386

* Asymptomatic * Oliguria * Systemic signs * Classic triad (fever, rash, eosinophilia) ## Footnote The classic triad may not always be present, making diagnosis challenging.

Answer 387

* Peripheral eosinophilia * Eosinophiluria * Urine sediment contains WBC casts * No hematuria, RBC casts, heavy proteinuria, or oval fat bodies * Metabolic acidosis may be noted ## Footnote These findings help differentiate acute interstitial nephritis from other kidney conditions.

Answer 388

* Discontinue drug causing condition * Empiric glucocorticoid therapy for 1-2 weeks ## Footnote Stopping the offending drug is crucial, and glucocorticoids may help reduce inflammation.

Answer 389

Infiltration of the kidney interstitium by inflammatory cells which then progresses to interstitial fibrosis and loss of kidney function. ## Footnote This condition can lead to significant renal impairment over time.

Answer 390

Causes include: * drugs (NSAIDs, cisplatin, cyclosporine, tacrolimus, lithium) * heavy metals (lead and cadmium) * autoimmune disease (Sjogren, SLE, sarcoidosis) * tubulointerstitial nephritis with uveitis * sickle cell disease * inflammatory bowel disease * reflux nephropathy ## Footnote Each cause contributes differently to kidney damage.

Answer 391

Symptoms include: * eye pain * eye redness * eyelid edema * loss of vision * weight loss * fever * fatigue ## Footnote This condition often presents with systemic symptoms alongside ocular manifestations.

Answer 392

Findings may include: * proteinuria * glucosuria * metabolic acidosis * electrolyte abnormalities * elevated serum creatinine * nonspecific flank pain ## Footnote These findings reflect the dysfunction of renal tubular and interstitial structures.

Answer 393

True ## Footnote NSAIDs can also contribute to hypertension and proteinuria.

Answer 394

interstitial fibrosis and loss of kidney function. ## Footnote This progression is a key concern in managing chronic interstitial nephritis.

Answer 395

Having a parent with asthma ## Footnote Maternal asthma increases the likelihood of developing asthma.

Answer 396

3-6 times more likely ## Footnote This statistic highlights the hereditary risk associated with asthma.

Answer 397

~15% ## Footnote This indicates the persistence of wheezing in some children.

Answer 398

~15% ## Footnote This shows that asthma can manifest later in childhood.

Answer 399

To predict the risk of developing persistent asthma in children ≤ 3 years of age who have recurrent wheezing ## Footnote The API helps in identifying children at risk for asthma.

Answer 400

Meets either 1 major criterion or 2 minor criteria ## Footnote This classification aids in asthma risk assessment.

Answer 401

1. A parent has physician-diagnosed asthma. 2. The child has atopic dermatitis (eczema) ## Footnote These criteria are significant indicators of asthma risk.

Answer 402

* The child has allergic rhinitis. * The child has wheezing unrelated to colds/upper respiratory infections. * The child has peripheral eosinophilia. ## Footnote Meeting two of these criteria indicates an increased risk of asthma.

Answer 403

1) Maintain a patent airway 2) Provide oxygen 3) Obtain IV or IO access 4) Obtain a 12-lead electrocardiogram ## Footnote IV refers to intravenous access, while IO refers to intraosseous access.

Answer 404

Immediate synchronized cardioversion at a dose of 0.5-1 J/kg ## Footnote If the first dose is ineffective, a second dose of 2 J/kg should be administered.

Answer 405

No, sedation should not delay cardioversion in an unstable patient ## Footnote Though sedation can be uncomfortable or painful, the priority is the patient's stability.

Answer 406

Adenosine ## Footnote Adenosine is used to treat certain types of tachycardia.

Answer 407

0.5-1 J/kg

Answer 408

Obtain IV or IO access ## Footnote This is critical for administering medications and fluids.

Answer 409

False ## Footnote Sedation is not mandatory and should not delay the procedure in unstable patients.

Answer 410

Voiding cystourethrogram (VCUG) ## Footnote This is to assess for vesicoureteral reflux or posterior urethral valves.

Answer 411

Hydronephrosis ## Footnote It can be severe or bilateral.

Answer 412

To assess for vesicoureteral reflux or posterior urethral valves

Answer 413

False ## Footnote Only those with severe or bilateral hydronephrosis should undergo VCUG.

Answer 414

A point mutation of Factor 5 that prevents cleavage by activated protein C

Answer 415

It renders the patient APC resistant

Answer 416

Protein C levels are not affected

Answer 417

[activated protein C]

Answer 418

Homocystinuria ## Footnote Elevated homocysteine levels can also be seen due to mutations of MTHFR, deficiencies of vitamin B12, vitamin B6, folate, or methotrexate therapy.

Answer 419

* Vitamin B12 * Vitamin B6 * Folate ## Footnote These deficiencies are factors contributing to elevated homocysteine levels.

Answer 420

Yes ## Footnote Methotrexate therapy is one of the conditions that can lead to elevated homocysteine levels.

Answer 421

No ## Footnote Protein C levels remain unaffected in homocystinuria, MTHFR mutations, vitamin deficiencies, and methotrexate therapy.

Answer 422

Prothrombin gene mutation ## Footnote This mutation increases plasma levels of prothrombin.

Answer 423

False ## Footnote The prothrombin gene mutation is not related to protein C.

Answer 424

homocystinuria, mutation of MTHFR, deficiency of vitamin B12, vitamin B6, folate, methotrexate therapy

Answer 425

Werdnig-Hoffmann disease or severe infantile SMA

Answer 426

More than 80%

Answer 427

In a child younger than 2 years of age

Answer 428

Progressive weakness and tongue fasciculations

Answer 429

Before 6 months of age

Answer 430

The ability to sit independently

Answer 431

Muscle weakness, lack of motor development, and poor muscle tone

Answer 432

Cognitive development is normal

Answer 433

Most children die by 2 years of age

Answer 434

Due to the development of disease modifying gene therapies

Answer 435

* Nusinersen * Onasemnogene abeparvovec

Answer 436

Pulmonic stenosis ## Footnote Pulmonic stenosis occurs in about 50% of patients with Noonan syndrome.

Answer 437

> 80% ## Footnote Cardiac abnormalities typically affect the right side of the heart.

Answer 438

* Pulmonic stenosis * Atrial septal defect * Hypertrophic cardiomyopathy ## Footnote Atrial septal defect and hypertrophic cardiomyopathy are less common than pulmonic stenosis.

Answer 439

False ## Footnote The degree of short stature varies with the specific genetic defect.

Answer 440

* Myeloproliferative disorders * Lymphedema * Hepatosplenomegaly * Bleeding diathesis * Hearing loss ## Footnote These complications can significantly affect the patient's health and quality of life.

Answer 441

Presence of typical facies plus 1 major or 2 minor criteria, or suggestive facies plus 2 major or 3 minor criteria.

Answer 442

* Pulmonic stenosis (PS) and/or hypertrophic cardiomyopathy (HCM) * Height < 3rd percentile * Pectus carinatum/excavatum * 1st degree relative with definite Noonan syndrome * Mild developmental delay, cryptorchidism, and lymphatic dysplasia

Answer 443

Pulmonic stenosis (PS) and/or hypertrophic cardiomyopathy (HCM)

Answer 444

Height < 3rd percentile

Answer 445

* Cardiac defect other than PS or HCM * Height < 10th percentile * Broad thorax * 1st degree relative with features suggestive of Noonan syndrome * Mild developmental delay, cryptorchidism, or lymphatic dysplasia

Answer 446

Height < 10th percentile

Answer 447

It is a minor criterion.

Answer 448

It counts as a minor criterion.

Answer 449

An emergency and pathologic until proven otherwise ## Footnote Radicular symptoms include tingling, change in sensation, weakness, and bowel/bladder dysfunction.

Answer 450

No, it is rarely from bone disease ## Footnote This highlights the need for careful evaluation of back pain in children.

Answer 451

Emergent spinal MRI ## Footnote This imaging is crucial to rule out serious underlying conditions.

Answer 452

Scarlatina ## Footnote Scarlet fever is also known as scarlatina.

Answer 453

An erythrotoxin produced by Streptococcus pyogenes ## Footnote Streptococcus pyogenes is a group A β-hemolytic Streptococcus (GABHS).

Answer 454

Fine, pinkish to intensely erythematous, papular, sandpaper-like rash ## Footnote The rash is sometimes pruritic and is known as 'gooseflesh'.

Answer 455

Circumoral area, palms, and soles ## Footnote These areas remain unaffected by the rash.

Answer 456

Linear petechiae in the flexor surfaces of the arms, legs, and trunk ## Footnote These lines accentuate the rash in scarlet fever.

Answer 457

10-14 days after the onset of the rash ## Footnote Desquamation is particularly prominent on the fingertips and toes.

Answer 458

Headache, stomachache, nausea, and vomiting ## Footnote These symptoms accompany the rash and sore throat.

Answer 459

Sore throat in the absence of associated upper respiratory symptoms ## Footnote This distinguishes it from other throat infections.

Answer 460

Beefy red tonsils covered by an exudate and soft palate petechiae ## Footnote These findings are typical in streptococcal pharyngitis.

Answer 461

Prominent lingual papillae ## Footnote This gives the tongue a 'strawberry-like' appearance.

Answer 462

Injected conjunctiva ## Footnote Injected conjunctiva is typically absent in patients with scarlatiniform rashes.

Answer 463

Koplik spots ## Footnote Koplik spots typically appear 2-3 days prior to the onset of the rash.

Answer 464

2-3 days prior ## Footnote Koplik spots may be absent by the time a child presents for medical evaluation.

Answer 465

Unlikely ## Footnote Vaccination significantly reduces the risk of contracting measles.

Answer 466

Numerous small ulcerations on the soft palate and posterior pharynx ## Footnote These ulcerations are a common symptom of coxsackievirus infections.

Answer 467

False ## Footnote Koplik spots may be absent by the time the child is evaluated.

Answer 468

Scarlatiniform rashes

Answer 469

Down syndrome ## Footnote Trisomy 21 is characterized by the presence of three copies of chromosome 21.

Answer 470

1/800 live births ## Footnote This statistic indicates how common Trisomy 21 is among newborns.

Answer 471

Non-disjunction during meiosis ## Footnote Non-disjunction refers to the failure of homologous chromosomes to separate properly during cell division.

Answer 472

* Hypotonia * Upslanted palpebral fissures * Protruding tongue ## Footnote These features are common in individuals with Down syndrome.

Answer 473

* Developmental delay * Intellectual disability (ID) ## Footnote Individuals with Trisomy 21 often experience delays in reaching developmental milestones.

Answer 474

* AV canal defects * Ventricular septal defect (VSD) * Atrial septal defect (ASD) ## Footnote These congenital heart defects are frequently observed in patients with Down syndrome.

Answer 475

* Duodenal atresia * Hirschsprung disease * Celiac disease * GERD * Imperforate anus ## Footnote These conditions can complicate the health of individuals with Down syndrome.

Answer 476

Cataracts ## Footnote Cataracts can affect vision in individuals with Down syndrome.

Answer 477

Hypothyroidism ## Footnote Hypothyroidism may occur due to developmental issues in the thyroid gland.

Answer 478

Atlantoaxial instability (C1-C2) ## Footnote This instability can lead to neurological complications.

Answer 479

Leukemia ## Footnote Individuals with Down syndrome have a higher risk of developing leukemia.

Answer 480

Self-limiting condition ## Footnote This condition is often seen in newborns with Down syndrome and usually resolves on its own.

Answer 481

Quad screen ## Footnote The quad screen tests maternal blood for specific markers associated with Down syndrome.

Answer 482

* Alpha-fetoprotein * Estriol * hCG * Inhibins ## Footnote These hormone levels are analyzed to assess the risk for certain conditions, including Trisomy 21.

Answer 483

Ultrasound for fetal nuchal translucency ## Footnote Increased nuchal translucency can indicate a higher risk for chromosomal abnormalities.

Answer 484

1 in 6,000 live births ## Footnote This refers to the frequency of occurrence of the condition in the general population.

Answer 485

3 copies of chromosome 18 but also mosaicism ## Footnote Mosaicism refers to the presence of two or more genetically different cell lines in the body.

Answer 486

Intrauterine Growth Restriction ## Footnote IUGR indicates that the fetus is not growing at the expected rate during pregnancy.

Answer 487

* High forehead * Macrocephaly * Small face and mouth

Answer 488

Rocker bottom feet ## Footnote This refers to a specific shape of the foot that is characteristic of this syndrome.

Answer 489

Overlapping fingers ## Footnote This feature is often observed in babies with this condition.

Answer 490

Clenched fist ## Footnote This is a common presentation in infants with Trisomy 18.

Answer 491

Short sternum ## Footnote A short sternum may contribute to various health issues in affected individuals.

Answer 492

Hypoplastic nails ## Footnote Hypoplastic nails are underdeveloped nails, often seen in this syndrome.

Answer 493

* FSD (functional single ventricle) * Dysplastic valves

Answer 494

Severe developmental delay ## Footnote This condition often leads to significant challenges in cognitive and physical development.

Answer 495

Die from central apnea ## Footnote Central apnea refers to a cessation of breathing due to a failure of the brain to send appropriate signals to the muscles that control breathing.

Answer 496

* Orofacial cleft * Microphthalmia * Low set, dysplastic ears * Spinal cord abnormalities * Postaxial polydactyly of the limbs * Holoprosencephaly * Hypoplastic or absent ribs * Aplasia cutis congenita * Rocker bottom feet * Clenched hands

Answer 497

Heart malformations

Answer 498

* Genital anomalies * Abdominal wall defects (omphalocele and visceral defects)

Answer 499

1/2,500 to 1/5,000

Answer 500

Monosomy of the X chromosome

Answer 501

* Short stature * Broad webbed neck * Shield-like chest * Posteriorly rotated ears * Lymphedema of the hands and feet * Short 4th metacarpals * Cubitus valgus

Answer 502

Ovarian failure

Answer 503

Lack of secondary sexual development

Answer 504

Primary amenorrhea

Answer 505

Fetal cystic hygroma

Answer 506

* Bicuspid aortic valves * Coarctation of the aorta

Answer 507

Chronic autoimmune thyroiditis

Answer 508

Carbohydrate intolerance

Answer 509

Celiac disease

Answer 510

* Horseshoe kidney * Duplicate collecting system * Abnormal vasculature

Answer 511

Hearing loss

Answer 512

Internal streak gonad removal

Answer 513

Y chromosome material

Answer 514

A genetic condition in males characterized by the presence of an extra X chromosome.

Answer 515

Tall stature.

Answer 516

The development of breast tissue in males, often seen in Klinefelter syndrome.

Answer 517

A condition where the physical changes associated with puberty occur later than usual.

Answer 518

The absence of sperm in semen, a common issue in Klinefelter syndrome.

Answer 519

Small testes.

Answer 520

Reduced fertility.

Answer 521

Microdeletion of the long arm of chromosome 7 ## Footnote This deletion affects various genes that contribute to the symptoms of the syndrome.

Answer 522

* Broad forehead * Periorbital fullness * Lacy pattern of the iris * Medial eyebrow flare * Short upturned nose * Flattened nasal bridge * Elongated philtrum * Wide mouth and full lips * Small jaw ## Footnote These features are part of the distinctive facial appearance seen in individuals with Williams syndrome.

Answer 523

Overly friendly personality ## Footnote This trait can lead to social challenges due to a lack of social inhibition.

Answer 524

* Strong verbal skills * Difficulty with spatial tasks ## Footnote Individuals may excel in language but struggle with tasks requiring spatial awareness.

Answer 525

Hypersensitivity to loud sounds ## Footnote This can affect their comfort in noisy environments.

Answer 526

Supravalvular aortic stenosis ## Footnote This condition can lead to various heart-related complications.

Answer 527

* Joint laxity * Soft skin * Hoarse voice ## Footnote These anomalies can affect physical health and development.

Answer 528

* Growth delay * Short stature ## Footnote These factors can impact overall health and development.

Answer 529

Affinity for music ## Footnote Many individuals with this syndrome show a heightened sensitivity and appreciation for music.

Answer 530

Strabismus ## Footnote This eye condition can lead to difficulties with vision and depth perception.

Answer 531

Hypercalcemia ## Footnote Elevated calcium levels can lead to various health complications.

Answer 532

overly friendly personality

Answer 533

False ## Footnote They often have difficulty with spatial tasks despite their strong verbal abilities.

Answer 534

AD disorder ## Footnote AD stands for autosomal dominant.

Answer 535

Jagged-1 (JAG1) gene ## Footnote Mutations or absence of this gene lead to the syndrome.

Answer 536

Triangular facies with pointed chin and long nose with broad midnose ## Footnote These features are part of the phenotypic presentation.

Answer 537

Bile duct paucity with cholestasis, jaundice, and intense pruritis ## Footnote These symptoms result from abnormalities in bile flow.

Answer 538

Peripheral and branch pulmonic stenosis, pulmonary valve stenosis, and Tetralogy of Fallot (TOF) ## Footnote These defects are common in patients with the syndrome.

Answer 539

Ocular defects ## Footnote Specific types of ocular defects may vary among patients.

Answer 540

Butterfly vertebrae ## Footnote This is a specific vertebral anomaly seen in the syndrome.

Answer 541

1 in 6,000 live births

Answer 542

* Cleft lip/palate * Tubular shaped nose * Hooding of the eyelids

Answer 543

Hypoplastic alae nasi

Answer 544

DiGeorge Syndrome

Answer 545

Parathyroid gland

Answer 546

Hypoplasia of the auricle and external auditory canal

Answer 547

Short stature

Answer 548

Behavioral problems

Answer 549

* Tetralogy of Fallot (TOF) * Interrupted aortic arch

Answer 550

Hypocalcemia

Answer 551

[truncus arteriosus]

Answer 552

Hypogonadotropic hypogonadism

Answer 553

Kallmann syndrome

Answer 554

* X-linked * Autosomal dominant * Autosomal recessive

Answer 555

Eunuchoidal body habitus

Answer 556

At least 5 cm

Answer 557

Secondary sexual characteristics

Answer 558

* Little or no facial hair * Little or no body hair * No increase in muscle bulk * Failure of voice to deepen

Answer 559

Some pubic hair

Answer 560

* Midfacial defects * Renal agenesis * Synkinesia

Answer 561

Low levels of FSH and/or LH

Answer 562

A defect in the anterior pituitary or hypothalamus

Answer 563

* Serum testosterone < 100 ng/dL in males * Serum estradiol < 20 pg/mL in girls

Answer 564

Approximately 1-10 in 100,000 live births

Answer 565

Approximately 2/3

Answer 566

At any age

Answer 567

* Microphallus (micropenis) * Cryptorchidism

Answer 568

Obvious abnormal clinical findings

Answer 569

Lack of sense of smell and midfacial or renal defects

Answer 570

* Failure to undergo sexual maturation * Growth spurt

Answer 571

Some degree of pubertal development

Answer 572

An inflammation of the vertebral disc thought to represent a low-grade infection ## Footnote Discitis is characterized by inflammation and is often associated with infection.

Answer 573

Usually normal ## Footnote This suggests that the inflammation may not be caused by a typical bacterial infection.

Answer 574

Erythrocyte sedimentation rate and C-reactive protein ## Footnote These markers indicate inflammation in the body.

Answer 575

Staphylococcus aureus ## Footnote This organism is frequently associated with infections, including discitis.

Answer 576

Kingella kingae ## Footnote Nucleic acid amplification assays have highlighted this organism's role in discitis.

Answer 577

No, blood cultures are usually sterile ## Footnote This indicates that bacteremia is not a common feature of discitis.

Answer 578

Children < 5 years of age ## Footnote This age range is significant due to vascular channel communication between the vertebral end plate and vascular disc space.

Answer 579

Limp, refusal to walk, point tenderness, decreased range of motion, loss of lumbar lordosis ## Footnote Each symptom reflects the impact of inflammation on the spine and surrounding areas.

Answer 580

Narrowing of the disc space ## Footnote This radiographic finding is a key indicator of discitis progression.

Answer 581

Changes noted much earlier than plain radiographs ## Footnote MRI is more sensitive in detecting early changes associated with discitis.

Answer 582

1-2 weeks of intravenous therapy followed by 5-6 weeks of oral therapy ## Footnote Treatment typically targets Staphylococcus aureus.

Answer 583

Anti-Kingella kingae therapy ## Footnote This is particularly relevant for the pediatric population due to the increasing recognition of this pathogen.

Answer 584

Analgesics, bed rest, and immobilization ## Footnote These measures help manage pain and support recovery.

Answer 585

Vocal cord paralysis ## Footnote This is caused by stretching the neck during delivery.

Answer 586

Approximately the same frequency ## Footnote Both bilateral and unilateral vocal cord paralysis occur with similar frequency.

Answer 587

* Arnold-Chiari malformation * Posterior fossa tumor * Hydrocephalus ## Footnote These conditions can lead to vocal cord paralysis.

Answer 588

* Chest x-ray * Barium swallow * Neuroimaging ## Footnote These tests help assess the cause of vocal cord paralysis.

Answer 589

* Cardiothoracic surgery * Thyroid surgery * Surgical repair of a tracheoesophageal fistula ## Footnote These surgical procedures may result in vocal cord paralysis.

Answer 590

* Absent cry * Weak cry * Risk for aspiration during feedings ## Footnote These signs indicate possible vocal cord paralysis in infants.

Answer 591

Subdued yet hoarse, raspy quality to their voice ## Footnote This vocal quality is characteristic of vocal cord paralysis.

Answer 592

Thyroglossal duct cyst ## Footnote This cyst results from abnormal development and migration of the thyroid gland.

Answer 593

Along the course of the thyroglossal duct between the base of the tongue and the visceral space of the infrahyoid neck ## Footnote The cyst can present as a neck mass.

Answer 594

No ## Footnote It can cause swallowing problems but not vocal cord paralysis.

Answer 595

A lymphatic lesion that usually affects the head and neck ## Footnote It has a predilection for the left side.

Answer 596

Tracheal compression ## Footnote This can occur due to the growth of the lesion.

Answer 597

No ## Footnote Cystic hygroma does not present in newborns as vocal cord paralysis.

Answer 598

The most common extracranial solid tumor malignancy of childhood

Answer 599

Within the first 5 years of life

Answer 600

In the adrenal gland (35%) or in the retroperitoneum (30-35%)

Answer 601

Significant pain and irritability

Answer 602

Compression and pain

Answer 603

Proptosis and bilateral periorbital ecchymosis ('raccoon eyes')

Answer 604

Vasoactive intestinal peptide (VIP)

Answer 605

Calcification within the tumor on CT scan is typically associated with neuroblastoma

Answer 606

Claw sign ## Footnote The claw sign indicates a mass arising from the kidney, specifically a Wilms tumor in this context.

Answer 607

Wilms tumor ## Footnote Wilms tumor is a common kidney cancer in children.

Answer 608

Diarrhea or periorbital ecchymosis ## Footnote These symptoms are not typically associated with Wilms tumor.

Answer 609

CT scan ## Footnote CT scans are commonly used to visualize kidney masses.

Answer 610

claw ## Footnote The claw sign indicates the presence of a tumor in the kidney.

Answer 611

False ## Footnote Diarrhea is not a common symptom of Wilms tumor.

Answer 612

Right renal vein ## Footnote Extension into the renal vein is a significant finding in the context of kidney tumors.

Answer 613

A genetic disorder caused by deletion of 2-4 Mb portion of chromosome 15 inherited from the mother ## Footnote It is characterized by various neurological and developmental issues.

Answer 614

* Seizures * Severe intellectual disability * Microcephaly * Ataxia * Hand flapping behaviors * Outbursts of laughter * Puppet-like gait ## Footnote These symptoms can vary in severity among individuals.

Answer 615

severe intellectual disability

Answer 616

Puppet-like gait ## Footnote This refers to a unique walking style often observed in individuals with the syndrome.

Answer 617

A genetic disorder characterized by deletion of a 2-4 Mb portion of chromosome 15 inherited from the father ## Footnote Prader-Willi syndrome leads to various physical and behavioral symptoms.

Answer 618

Severe hypotonia, feeding difficulties, narrow forehead, almond-shaped eyes ## Footnote These symptoms manifest early in life.

Answer 619

Hyperphagia, severe obesity, short stature, small hands and feet, hypogonadism, mild intellectual disability, behavior disorders ## Footnote These symptoms typically develop as the child grows.

Answer 620

An excessive appetite leading to overeating ## Footnote Hyperphagia is a hallmark symptom in childhood for individuals with Prader-Willi syndrome.

Answer 621

Short stature, small hands and feet, narrow forehead, almond-shaped eyes ## Footnote These features are part of the syndrome's presentation.

Answer 622

A condition involving reduced or absent hormone production from the gonads ## Footnote Hypogonadism can affect sexual development and function in individuals with Prader-Willi syndrome.

Answer 623

False ## Footnote The deletion is specifically inherited from the father.

Answer 624

severe hypotonia ## Footnote Severe hypotonia is one of the early signs of the syndrome.

Answer 625

Mild intellectual disability ## Footnote This cognitive effect can vary in severity among individuals.

Answer 626

Behavior disorders ## Footnote These issues may include temper tantrums, stubbornness, and other challenges.

Answer 627

Beckwith-Wiedemann syndrome ## Footnote Beckwith-Wiedemann syndrome is a genetic condition that can lead to various growth abnormalities.

Answer 628

Macroglossia ## Footnote Macroglossia refers to an abnormally large tongue, which can impact speech and eating.

Answer 629

Beckwith-Wiedemann syndrome ## Footnote Ear lobe creases are one of the physical features that may be observed in individuals with this syndrome.

Answer 630

Beckwith-Wiedemann syndrome ## Footnote Posterior auricular pits are small indentations located near the ear and can be a feature of this syndrome.

Answer 631

Omphalocele ## Footnote Omphalocele is a condition where the abdominal contents protrude through the abdominal wall at the navel.

Answer 632

Wilms tumor ## Footnote Wilms tumor is a type of kidney cancer that typically occurs in children and is linked to this syndrome.

Answer 633

Cryptorchidism ## Footnote Cryptorchidism refers to a condition where one or both testicles fail to descend into the scrotum.

Answer 634

A condition of asymmetric overgrowth of one side of the body ## Footnote Hemihyperplasia can be a feature of Beckwith-Wiedemann syndrome, leading to uneven growth.

Answer 635

False ## Footnote The syndrome is characterized by generalized overgrowth, not undergrowth.

Answer 636

Large for gestational age ## Footnote LGA refers to infants who are larger than the typical size for their gestational age, often seen in this syndrome.

Answer 637

1 in 4,000 males ## Footnote This indicates the frequency of the condition in the male population.

Answer 638

1 in 6,000 to 1 in 8,000 females ## Footnote This shows how the incidence varies between genders.

Answer 639

> 200 repeats ## Footnote This refers to the number of CGG repeats in the FMR1 gene that leads to the full mutation.

Answer 640

* Large head * Long face with prominent jaw * Large ears * Large hands and feet * Macroorchidism after puberty * Hyperflexible joints ## Footnote These traits are commonly observed in individuals with full mutation.

Answer 641

Mild cognitive and behavioral deficits ## Footnote Individuals with a premutation may experience less severe effects than those with a full mutation.

Answer 642

Primary ovarian insufficiency ## Footnote This condition affects reproductive health in females with a premutation.

Answer 643

Fragile X associated tremor/ataxia syndrome ## Footnote This syndrome typically manifests in older adults with the premutation.

Answer 644

Intrauterine Growth Restriction

Answer 645

Poor growth

Answer 646

Microcephaly

Answer 647

Downturned mouth

Answer 648

Microbrachycephaly

Answer 649

Micrognathia

Answer 650

Low hairline

Answer 651

Long eyelashes

Answer 652

Thin upper lip

Answer 653

Low set ears

Answer 654

Micromelia

Answer 655

Phocomelia

Answer 656

Syndactyly of the toes

Answer 657

ID (Intellectual Disability)

Answer 658

Destructive behavior

Answer 659

Heart defects

Answer 660

Hearing loss

Answer 661

Renal anomalies

Answer 662

Genital abnormalities

Answer 663

A genetic disorder characterized by short stature, pectus excavatum, webbed neck, low set ears, hypertelorism, lymphedema, and bleeding diathesis ## Footnote Noonan syndrome is inherited in an autosomal dominant (AD) manner.

Answer 664

Autosomal dominant (AD) ## Footnote This means that only one copy of the mutated gene is sufficient to cause the disorder.

Answer 665

* Short stature * Webbed neck * Low set ears ## Footnote These features are part of the clinical presentation of the syndrome.

Answer 666

A condition where the breastbone is sunken into the chest ## Footnote It is one of the physical characteristics observed in patients with Noonan syndrome.

Answer 667

Increased distance between the eyes ## Footnote Hypertelorism is a common feature in various genetic syndromes, including Noonan syndrome.

Answer 668

Swelling due to the accumulation of lymph fluid ## Footnote It can be a symptom associated with Noonan syndrome.

Answer 669

Pulmonary valve stenosis ## Footnote This defect can contribute to cardiovascular complications in patients with Noonan syndrome.

Answer 670

Used to address short stature in affected individuals ## Footnote Growth hormone therapy may help improve growth outcomes.

Answer 671

True ## Footnote Bleeding diathesis refers to an increased tendency to bleed and is a notable feature of the syndrome.

Answer 672

A condition characterized by a combination of micrognathia, glossoptosis, respiratory distress, and feeding problems. ## Footnote Pierre Robin Sequence is often associated with other congenital conditions and can lead to significant clinical challenges.

Answer 673

A condition where the jaw is smaller than normal. ## Footnote Micrognathia is a common feature in Pierre Robin Sequence and can lead to difficulties with feeding and breathing.

Answer 674

A condition where the tongue is positioned further back in the mouth than normal, potentially obstructing the airway. ## Footnote Glossoptosis often occurs in conjunction with micrognathia and is a significant factor in respiratory distress.

Answer 675

* Micrognathia * Glossoptosis * Respiratory distress * Feeding problems ## Footnote These symptoms can vary in severity and may require multidisciplinary management.

Answer 676

True ## Footnote Respiratory distress can arise due to airway obstruction caused by glossoptosis.

Answer 677

feeding ## Footnote Feeding problems can occur due to difficulties with latch and sucking, which are exacerbated by micrognathia and glossoptosis.

Answer 678

A condition caused by amniotic bands leading to various physical disruptions.

Answer 679

They can cause disruptive clefts of the face and palate.

Answer 680

Amputations of limbs and digits.

Answer 681

A genetic disorder characterized by facial deformities

Answer 682

Autosomal dominant (AD)

Answer 683

A condition where the jaw is undersized

Answer 684

Zygomatic arch clefts

Answer 685

Ear malformations

Answer 686

Downward slanting

Answer 687

It extends into the preauricular region

Answer 688

Colobomata of the lower eyelids

Answer 689

Absent eyelashes

Answer 690

Conductive hearing loss

Answer 691

Mutation of the FGFR3 gene

Answer 692

Mutation rate increases with advanced paternal age

Answer 693

* Disproportionate short stature with rhizomelic shortening * Lumbar lordosis * Trident hands * Macrocephaly * Flat nasal bridge * Prominent forehead * Midfacial hypoplasia

Answer 694

* Increased risk for delay in milestones * Bowing of the legs * Serous otitis media * Orthodontic problems

Answer 695

* Compression of the upper cord * Apnea * Quadriparesis * Growth delay * Hydrocephalus * Death

Answer 696

Clinically or molecularly

Answer 697

* Squared iliac wings * Flat acetabula * Thick femoral necks * Rounded femoral heads

Answer 698

Follow head size with specific growth curves

Answer 699

Detailed neurological exam

Answer 700

* Neuroimaging * Polysomnography

Answer 701

Abnormal structure of type 1 collagen due to mutations in COL1A1 and COL1A2 genes ## Footnote Osteogenesis imperfecta (OI) is primarily caused by these genetic mutations affecting collagen production.

Answer 702

* Mildest and most common type of OI * Blue sclerae * Multiple fractures before puberty * Delayed fontanelle closure * Hyperextensible joints * Hearing loss * Decreased stature * Dentinogenesis imperfecta ## Footnote This type does not cause retinal hemorrhage or subdural hematomas.

Answer 703

Mild osteopenia of the long bones and wormian bones ## Footnote These findings are indicative of the bone fragility associated with OI.

Answer 704

Results in death during the newborn period due to respiratory insufficiency ## Footnote This is the most severe form of OI.

Answer 705

Long bones with crumpled appearance and beaded ribs due to callus formation ## Footnote These features highlight the severe skeletal deformities present in this type.

Answer 706

* Presents in newborn period with numerous fractures * Severe short stature * Cannot ambulate * Blue sclerae at birth that lighten with age * Hydrocephalus and basilar skull invagination ## Footnote This form is associated with significant deformities and complications.

Answer 707

* Normal sclerae (white or near white) * Delayed fontanelle closure * Fractures present at birth * Shorter stature * Tibial bowing ## Footnote This type is less severe but still presents with notable features.

Answer 708

1 in 5,000 to 1 in 10,000 ## Footnote Marfan syndrome is an autosomal dominant condition.

Answer 709

Aortic root dilatation and rupture

Answer 710

* Tall stature * High arched palate * Upward lens dislocation

Answer 711

Joint hypermobility

Answer 712

* Pectus carinatum * Pectus excavatum

Answer 713

Spontaneous pneumothorax

Answer 714

Mitral valve prolapse

Answer 715

Ghent criteria

Answer 716

* Family history * Fibrillin gene mutation

Answer 717

* Aortic dilation or dissection * Ectopic lentis

Answer 718

Annual or semiannual

Answer 719

Antihypertensive – beta blocker + ARBs

Answer 720

A genetic disorder affecting connective tissues, characterized by hyperextensible skin and hypermobile joints ## Footnote Ehlers-Danlos syndrome includes various subtypes with different symptoms and inheritance patterns.

Answer 721

Wet chamois, fine sponge, doughy texture; extra skin over hands, feet, and stomach ## Footnote Hyperextensibility of the skin is a hallmark feature of the condition.

Answer 722

Tears with a 'fish-mouth appearance' ## Footnote Fragile skin can lead to easy bruising and visible scarring.

Answer 723

Knees and elbows extend past 180 degrees, fingers past 90 degrees ## Footnote Joint hypermobility can lead to joint pain and dislocations.

Answer 724

Bruising occurs with minimal trauma due to fragile blood vessels ## Footnote Easy bruising is common in individuals with connective tissue disorders.

Answer 725

Dystrophic scarring – thin and shiny ## Footnote Scarring can be more pronounced and atypical in appearance.

Answer 726

Wrinkled palms and soles ## Footnote These features can indicate connective tissue abnormalities.

Answer 727

Soft tissue masses that can occur due to abnormal scarring or tissue growth ## Footnote Pseudotumors can mimic true tumors but are not cancerous.

Answer 728

Mitral valve prolapse and proximal aortic dilatation ## Footnote Regular screening is recommended to monitor heart health.

Answer 729

Echo, CT, or MRI ## Footnote These imaging modalities help assess cardiovascular complications.

Answer 730

Use of shin guards, high-topped boots, and kneepads ## Footnote Protective equipment can help minimize injuries during physical activities.

Answer 731

Physical contact sports ## Footnote These sports increase the risk of joint injuries and bruising.

Answer 732

1 in 3000 ## Footnote NF1 is an autosomal dominant condition, meaning it can be inherited in 50% of cases.

Answer 733

Café au lait spots and benign cutaneous neurofibromas ## Footnote Café au lait spots typically appear in the first 2 years of life.

Answer 734

50% ## Footnote This includes ADHD and speech disorders.

Answer 735

Short stature, macrocephaly, hypertension, constipation, headaches ## Footnote These characteristics may vary among individuals.

Answer 736

Seizures, optic gliomas, and intracranial tumors ## Footnote These risks necessitate regular monitoring.

Answer 737

Sphenoid wing dysplasia, long bone bowing, scoliosis ## Footnote Bony changes can be significant in diagnosis.

Answer 738

2 out of 7 criteria including: * 6 café au lait spots (5 mm prepubertal; 15 mm postpubertal) * 2 neurofibromas of any type or 1 plexiform neurofibroma * Freckling in axillary or inguinal areas * Optic glioma * 2 Lisch nodules * Osseous lesion * 1st degree relative with NF1 ## Footnote The presence of these criteria aids in diagnosis.

Answer 739

1 in 30,000 ## Footnote NF2 is also an autosomal dominant condition.

Answer 740

Bilateral vestibular schwannomas (acoustic neuromas) ## Footnote These tumors are a hallmark of NF2.

Answer 741

Sensorineural hearing loss, tinnitus, imbalance, facial weakness ## Footnote These symptoms can significantly affect quality of life.

Answer 742

Meningioma, schwannoma, neurofibroma, glioma ## Footnote These tumors may also be present alongside vestibular schwannomas.

Answer 743

Bilateral vestibular schwannomas or unilateral vestibular schwannoma with 2 of the following: * Meningioma * Schwannoma * Neurofibroma * Glioma * Cataract ## Footnote These criteria help differentiate NF2 from other conditions.

Answer 744

Autosomal dominant (AD) with a prevalence of 1 in 6000

Answer 745

Mutations in TSC1 or TSC2 gene

Answer 746

Ash leaf spots

Answer 747

Oval shaped nevoid plaques, skin-colored or pigmented, smooth or crinkled appearing on the trunk or lower back

Answer 748

Facial angiofibromas

Answer 749

Skin lesions associated with Tuberous Sclerosis

Answer 750

Ungual (nail) and gingival fibromas

Answer 751

Brain lesions associated with Tuberous Sclerosis

Answer 752

Renal angiomyolipomas or renal cysts

Answer 753

Cardiac rhabdomyomas associated with Tuberous Sclerosis

Answer 754

Infantile spasms

Answer 755

Woods lamp

Answer 756

Control seizures and cardiac arrhythmias

Answer 757

Vigabatrin

Answer 758

A genetic disorder characterized by multiple bony fibrous dysplasia, café au lait spots, and precocious puberty. ## Footnote McCune-Albright syndrome results from a mutation affecting G-protein signaling, leading to various endocrine and skeletal abnormalities.

Answer 759

* Multiple bony fibrous dysplasia * Café au lait spots * Precocious puberty ## Footnote These features are critical for diagnosis and understanding the syndrome's implications.

Answer 760

Pigmented skin lesions that are light brown in color, often associated with various genetic conditions, including McCune-Albright syndrome. ## Footnote The number and size of café au lait spots can vary and are used in clinical evaluation.

Answer 761

The onset of secondary sexual characteristics before age 9 in boys and before age 8 in girls. ## Footnote In McCune-Albright syndrome, precocious puberty is due to overproduction of sex hormones.

Answer 762

True ## Footnote This is one of the hallmark features of McCune-Albright syndrome.

Answer 763

AD – multisystem cancer disorder ## Footnote AD refers to autosomal dominant inheritance.

Answer 764

1 in 36,000 live births

Answer 765

Benign and malignant tumors of the: * eyes * CNS * kidneys * pancreas * adrenal glands * reproductive glands

Answer 766

Cerebellar hemangioblastoma in adolescence or retinal angioma by 10 years of age

Answer 767

2 or more hemangioblastomas in the CNS or: * 1 single hemangioblastoma plus 1 of the following: - Pheochromocytoma - Endolymphatic sac tumors - Cysts in the kidney/pancreas - Renal cell carcinoma - Cystadenomas and neuroendocrine tumors of the pancreas * 1st degree relative with VHL and 1 manifestation

Answer 768

Vertebral, Anal atresia, Cardiac, Tracheal, Esophageal, Renal, Limb abnormalities ## Footnote VATER/VACTERL is a group of congenital malformations that occur together.

Answer 769

Vertebral ## Footnote Vertebral anomalies can include malformations of the vertebrae.

Answer 770

Anal atresia ## Footnote Anal atresia can lead to complications in bowel movements.

Answer 771

Cardiac ## Footnote Cardiac abnormalities can vary widely in severity and type.

Answer 772

Tracheal ## Footnote Tracheal defects can affect breathing and require surgical intervention.

Answer 773

Esophageal ## Footnote Esophageal atresia is a common issue where the esophagus does not connect properly to the stomach.

Answer 774

Renal ## Footnote Renal abnormalities can include issues with kidney development.

Answer 775

Limb abnormalities ## Footnote Limb abnormalities can range from minor deformities to significant malformations.

Answer 776

Coloboma ## Footnote Coloboma refers to a defect in the eye structure, often affecting the iris, retina, or optic nerve.

Answer 777

Heart disease ## Footnote Heart disease in the context of CHARGE syndrome often includes congenital heart defects.

Answer 778

Atresia of the choanae ## Footnote Atresia of the choanae is a congenital condition where the nasal passage is blocked or absent.

Answer 779

Restricted growth and development ## Footnote This refers to delays in physical growth and developmental milestones.

Answer 780

Genital anomalies ## Footnote Genital anomalies can include a variety of congenital differences in the reproductive organs.

Answer 781

Ear anomalies/deafness ## Footnote Ear anomalies may include structural differences in the ear, often leading to hearing loss.

Answer 782

Prior history of intubation for asthma ## Footnote Status asthmaticus refers to an acute asthma exacerbation that is unresponsive to initial treatment.

Answer 783

* Past history of sudden severe exacerbations * Prior admission for asthma to an intensive care unit (ICU) ## Footnote These factors indicate a higher likelihood of severe asthma attacks.

Answer 784

≥ 2 hospitalizations ## Footnote Frequent hospitalizations suggest poorly controlled asthma.

Answer 785

True ## Footnote This indicates recurrent severe asthma issues.

Answer 786

Hospitalization or ED visit for asthma in the past month ## Footnote Recent medical interventions reflect ongoing asthma severity.

Answer 787

> 2 ## Footnote SABAs refer to short-acting beta-agonists used for quick relief in asthma.

Answer 788

Subcutaneous epinephrine ## Footnote Subcutaneous epinephrine is no longer a conventional treatment for status asthmaticus.

Answer 789

* SABAs * Anticholinergics * Steroids * IV magnesium sulfate * Oxygen to correct hypoxia ## Footnote These treatments are aimed at managing acute asthma exacerbations.

Answer 790

Noninvasive ventilation and/or mechanical ventilation ## Footnote These interventions are used to support breathing when patient is in respiratory distress.

Answer 791

Elevated levels of maternal serum a-fetoprotein (MSAFP) ## Footnote Open neural tube defects occur in 2-3/1,000 pregnancies.

Answer 792

Multifactorial, involving genetic, racial, and environmental factors ## Footnote Environmental factors include nutrition, especially folic acid intake.

Answer 793

Intrauterine exposure to antiseizure drugs, particularly valproate and carbamazepine ## Footnote Valproate is also known as valproic acid.

Answer 794

2% risk ## Footnote The risk may be greater in mothers taking multiple antiseizure medications.

Answer 795

Craniofacial abnormalities and preaxial defects

Answer 796

Ebstein anomaly

Answer 797

Increased risk of cardiovascular and other congenital malformations

Answer 798

Withdrawal symptoms

Answer 799

Coxsackievirus A16 ## Footnote Hand-foot-and-mouth disease can also be caused by other coxsackie A and B virus types or enteroviruses like echovirus.

Answer 800

Maculopapular and vesicular lesions on an erythematous base ## Footnote These lesions most often involve the hands, feet, and sometimes the buttocks.

Answer 801

Grayish with thickened walls ## Footnote These vesicles are often located on an erythematous base.

Answer 802

Shallow, whitish-yellow ulcers surrounded by a reddish halo ## Footnote These lesions are typically found on the soft palate, uvula, and anterior tonsillar pillars.

Answer 803

Irritability, increased temperature, and difficulty feeding ## Footnote Symptoms often include frequent drooling and apparent odynophagia.

Answer 804

Herpangina ## Footnote This condition affects the posterior pharynx, soft palate, uvula, and/or tonsillar pillars.

Answer 805

Symptomatic treatment with close monitoring of oral intake ## Footnote Observation for signs of dehydration due to decreased fluid intake and increased temperature is essential.

Answer 806

Myopericarditis, pneumonitis, pleurodynia, paralytic disease, meningitis/meningoencephalitis ## Footnote These complications can occur in addition to hand-foot-and-mouth disease.

Answer 807

maculopapular and vesicular

Answer 808

False ## Footnote It can also be caused by other coxsackie A and B virus types or enteroviruses.

Answer 809

Widespread punctuate, papular, erythematous lesions associated with oral ulcerations covering the soft and hard palates and a 'sunburn-like' malar flush ## Footnote Includes multiple well-demarcated ulcerations on the tongue and buccal mucosa.

Answer 810

Blistering and crusting of the lips associated with marginated wheals with central vesicles on the anterior and posterior trunk ## Footnote This condition is often related to herpes simplex virus infection.

Answer 811

Multiple, light reddish-pink macular lesions on the anterior and posterior trunk associated with cracked red lips, gingival erythema, and ulcerations ## Footnote Kawasaki disease is an acute vasculitis that primarily affects children.

Answer 812

False ## Footnote Wheals with central vesicles are associated with eczema herpeticum.

Answer 813

Kawasaki disease ## Footnote These symptoms are part of the presentation of Kawasaki disease.

Answer 814

Muscle cramping and weakness ## Footnote These symptoms indicate a deficiency in potassium levels.

Answer 815

Renal tubular acidosis (RTA) ## Footnote Specifically, it indicates a hyperchloremic metabolic acidosis.

Answer 816

AG = Na - (Cl + HCO3) ## Footnote A normal anion gap is typically between 8-12 mEq/L.

Answer 817

It is associated with hyperkalemia due to aldosterone deficiency/resistance ## Footnote This patient has hypokalemia.

Answer 818

Should be < 5.5 ## Footnote The patient's elevated urine pH makes Type 2 RTA unlikely.

Answer 819

Distal RTA (Type 1) with hypokalemia ## Footnote Toluene impairs Ht secretion in the collecting duct.

Answer 820

* Spray paints * Plastic and rubber cements * Typewriter-correction fluid * Gasoline ## Footnote These substances are commonly used and can lead to inhalant abuse.

Answer 821

* Sniffed directly from the container * Bagged by inhaling from a bag * Huffed from a saturated fabric ## Footnote These methods allow for rapid absorption of the inhalant.

Answer 822

Stimulation and excitation ## Footnote This is often followed by a depressant effect.

Answer 823

* Loss of inhibition * Poor judgment * Visual distortions * Hallucinations ## Footnote These effects can impair decision-making and perception.

Answer 824

It dissipates quickly ## Footnote This allows users to appear relatively normal shortly after use.

Answer 825

* Excessive lacrimation * Rhinorrhea * Salivation * Nausea and vomiting * Coughing and wheezing * Headaches * Slurred speech * Ataxia ## Footnote These symptoms can vary in severity depending on the amount used.

Answer 826

* Respiratory depression * Seizures * Coma * Cardiopulmonary arrest ## Footnote These outcomes can be life-threatening and require immediate medical attention.

Answer 827

Use of several medications including amphotericin B, lithium, ifosfamide, and cisplatin

Answer 828

A disorder of peroxisomal degradation of fatty acid leading to accumulation of very long-chain fatty acids in the central and peripheral nervous system and adrenal glands.

Answer 829

Via an X-linked recessive pattern.

Answer 830

Between 5 and 15 years of age.

Answer 831

Cortisol deficiency.

Answer 832

Up to 70% of cases.

Answer 833

Proopiomelanocortin.

Answer 834

Increased melanin synthesis and hyperpigmentation.

Answer 835

Knees, elbows, palmar creases, axillae, and gingival borders.

Answer 836

* Seizures * Impaired auditory discrimination * Spatial orientation disturbances * Visual disturbances

Answer 837

Symmetric periventricular white matter lesions in the posterior parietal and occipital regions.

Answer 838

CT or MRI.

Answer 839

Treatment of adrenal insufficiency.

Answer 840

Bone marrow transplantation.

Answer 841

Improved only by salicylates and nonsteroidal antiinflammatory agents ## Footnote Acetaminophen does not relieve the pain.

Answer 842

Surgical excision or radiofrequency ablation ## Footnote These are options for patients who do not respond to medication.

Answer 843

Proximal femur ## Footnote Other commonly affected locations include proximal tibia, humerus, and posterior elements of the spine.

Answer 844

Radiolucent, sharp, rounded lesion < 2 cm in diameter surrounded by reactive sclerosis ## Footnote This appearance is typically found in the cortex of the bone.

Answer 845

An overgrowth of cartilage and bone at the end of the bone near the growth plate ## Footnote Clinically presents as a hard, immobile, painless mass.

Answer 846

A benign tumor thought to originate from immature cartilage ## Footnote Most common in children and adolescents aged 10 to 20 years.

Answer 847

Epiphysis of the long bones ## Footnote It presents with pain and impaired mobility of the adjacent joint.

Answer 848

A benign tumor that affects the hyaline cartilage of the long bones of the hands and feet ## Footnote It presents with pain and limitation of mobility.

Answer 849

Pain over the metaphysis of a long bone ## Footnote Characterized by sclerotic destruction of the bone resembling a 'sunburst' appearance.

Answer 850

Post-circumcision bleeding ## Footnote This bleeding can occur due to the deficiencies in clotting factors associated with hemophilia.

Answer 851

PTT will be prolonged ## Footnote This indicates a problem with the intrinsic pathway of coagulation.

Answer 852

PT will be normal ## Footnote This suggests that the extrinsic pathway of coagulation is functioning properly.

Answer 853

A prolonged PTT with normal PT ## Footnote This combination indicates potential hemophilia A, B, or C.

Answer 854

Factor 8 ## Footnote Hemophilia A is caused by a deficiency in factor 8.

Answer 855

Factor 9 ## Footnote Hemophilia B is caused by a deficiency in factor 9.

Answer 856

Factor 11 ## Footnote Hemophilia C is caused by a deficiency in factor 11.

Answer 857

To assist in the diagnosis of immune thrombocytopenia ## Footnote Immune thrombocytopenia is characterized by a low platelet count (thrombocytopenia) and symptoms such as easy bruising.

Answer 858

Immune thrombocytopenia ## Footnote Immune thrombocytopenia is an autoimmune disorder where the immune system mistakenly attacks and destroys platelets.

Answer 859

immune thrombocytopenia

Answer 860

* Thrombocytopenia * Easy bruising

Answer 861

Concern for severe Factor 13 deficiency ## Footnote Factor XIII deficiency is a rare autosomal recessive bleeding disorder.

Answer 862

A rare autosomal recessive bleeding disorder ## Footnote It is characterized by severe bleeding episodes.

Answer 863

* Intracranial hemorrhage * Gastrointestinal bleeding * Bleeding from the umbilical cord ## Footnote These presentations highlight the seriousness of the condition.

Answer 864

Hereditary spherocytosis ## Footnote Hereditary spherocytosis is a genetic condition affecting red blood cells.

Answer 865

No ## Footnote This condition primarily affects the shape and stability of red blood cells rather than bleeding tendencies.

Answer 866

MPSs result from defects in the catabolism of glycosaminoglycans by various lysosomal hydrolase enzymes.

Answer 867

* Dermatan sulfate * Heparan sulfate * Keratan sulfate

Answer 868

* Dysmorphic/coarse features * Learning difficulties * Behavior problems * Severe bone dysplasia

Answer 869

Screen urine for glycosaminoglycans, but inaccurate/false-negative results are common.

Answer 870

Radiographs demonstrating skeletal abnormalities are diagnostic.

Answer 871

Enzyme replacement therapy is available for some of these disorders.

Answer 872

Hurler Syndrome

Answer 873

Autosomal recessive (AR)

Answer 874

a-L-iduronidase

Answer 875

* Coarsened facial features * Midface hypoplasia * Large tongues * Corneal clouding * Frequent upper respiratory infections

Answer 876

Prognosis is generally related to cardiac involvement, which can be severe.

Answer 877

Enzyme replacement therapy for those with milder forms and hematopoietic stem cell transplant (HSCT) for infants/children.

Answer 878

Hunter Syndrome

Answer 879

X-linked recessive

Answer 880

* Learning difficulties * Middle ear disease * Hernias * Coarse facial appearance * Diarrhea * Hepatosplenomegaly

Answer 881

A nodular rash around the scapulae and the extensor surfaces.

Answer 882

Enzyme replacement therapy.

Answer 883

Sanfilippo Syndrome

Answer 884

* MPS 3A * MPS 3B * MPS 3C * MPS 3D

Answer 885

Severe CNS involvement and mild somatic disease.

Answer 886

* Phase 1: Developmental delay * Phase 2: Severe behavior issues * Phase 3: Swallowing dysfunction and vegetative state

Answer 887

Disorders characterized by defects in the lysosomal breakdown of sphingolipids.

Answer 888

Deficiency of lysosomal glucocerebrosidase leading to glucocerebroside accumulation.

Answer 889

Splenomegaly

Answer 890

Enzyme replacement therapy.

Answer 891

Most infants die before 2 years of age.

Answer 892

Deficiency of acid sphingomyelinase leading to neurovisceral manifestations.

Answer 893

* Vomiting * Diarrhea * Growth faltering * Hepatosplenomegaly

Answer 894

Niemann-Pick Disease Type C

Answer 895

Ataxia and hepatosplenomegaly.

Answer 896

Finding low levels of sphingomyelinase in leukocytes or cultured fibroblasts.

Answer 897

Supranuclear vertical-gaze palsy ## Footnote Voluntary vertical eye movement is lost, but reflex 'doll's eye' movements are preserved.

Answer 898

Dysphagia ## Footnote If progressive, it may result in the need for a feeding tube.

Answer 899

Molecular genetic testing for biallelic pathogenic variants in NPC1 or NPC2 genes ## Footnote Historically, intralysosomal accumulation of unesterified cholesterol in cultured fibroblasts was required.

Answer 900

An AR disorder caused by mutations in the HEXA gene ## Footnote This results in disruption of the enzyme hexosaminidase A.

Answer 901

GM2 ganglioside ## Footnote The accumulation occurs in neurons, especially in the brain and spinal cord.

Answer 902

Blindness, deafness, and paralysis ## Footnote Increasingly toxic levels can result in death.

Answer 903

Demonstrating low hexosaminidase A activity in blood or tissue, confirmed by DNA analysis.

Answer 904

Within the first few months of life

Answer 905

Macular cherry-red spot ## Footnote Occurs bilaterally in > 90% of infants.

Answer 906

Indolent presentation with symptoms like intention tremor and school problems

Answer 907

An X-linked recessive sphingolipidosis ## Footnote Mainly affects boys but can also affect heterozygous girls.

Answer 908

Severe, episodic neuropathic pain in the hands and feet ## Footnote Heat exposure may initiate these pain crises.

Answer 909

Angiokeratomata ## Footnote Tiny, red to dark blue, papular lesions on various body parts.

Answer 910

Finding deficiency of lysosomal a-galactosidase in plasma, leukocytes, or cultured skin fibroblasts.

Answer 911

A severe disorder of peroxisome function ## Footnote Includes infantile Refsum disease and neonatal adrenoleukodystrophy.

Answer 912

Characteristic facies, cataracts, pigmented retinopathy, hearing loss, and vision loss

Answer 913

Elevated serum levels of very-long-chain fatty acids, phytanic acid, and pipecolic acid.

Answer 914

Mutation in the Menkes gene (ATP7A) ## Footnote It leads to impaired uptake of copper.

Answer 915

Pudgy cheeks, sagging jowls, sparse hair, and characteristic 'kinky' hair

Answer 916

Progressive neurologic deterioration, seizures, and loss of milestones

Answer 917

An X-linked recessive disorder caused by deficiency of hypoxanthine guanine phosphoribosyltransferase (HGPRT)

Answer 918

Self-mutilation behaviors like biting lips and fingers

Answer 919

Kidney stones and gout due to increased uric acid production

Answer 920

Finding HGPRT deficiency in RBCs and cultured skin

Answer 921

Symptoms include: * Pulmonary infiltrates * Fever * Chest pain * Tachypnea * Hypoxia ## Footnote This condition is critical in sickle cell disease.

Answer 922

Red flags include: * Cocaine/crack use * Familial hyperlipidemia * History of Kawasaki disease * Anomalous coronary artery in children ## Footnote Pain is severe, pressure-like, and substernal, radiating to the neck and arm.

Answer 923

ECG findings include: * ST segment elevation * T wave changes * Reciprocal ST segment depression ## Footnote Troponin and CK levels may also be elevated.

Answer 924

Red flags include: * Marfan syndrome * Turner syndrome * Ehlers-Danlos syndrome * Major trauma ## Footnote Pain is sharp, tearing, and may radiate to the neck or back.

Answer 925

Imaging studies include: * MRI * CT * Transesophageal echo ## Footnote Surgical intervention may be required.

Answer 926

Symptoms include: * Sudden, severe, unilateral chest pain * Dyspnea ## Footnote Diminished breath sounds and hyper-resonant percussion are notable findings.

Answer 927

Triggered by a sudden increase in intrathoracic pressure during Valsalva maneuver ## Footnote Symptoms include severe, wildly radiating chest pain and dyspnea.

Answer 928

Hamman's sign ## Footnote This sign is characterized by a harsh, crunch-like mediastinal systolic sound.

Answer 929

GERD symptoms worsen in relation to meals and in the supine position ## Footnote Treatment options include H2 blockers and antacids.

Answer 930

Symptoms include: * Fever * Cough * Unilateral diminished breath sounds ## Footnote Irritation of the diaphragm may radiate pain to the shoulder and lower chest.

Answer 931

Risk factors include: * Central venous catheter * Obesity * Oral contraceptives * Immobility * Malignancy ## Footnote Symptoms include pleuritic chest pain, cough, dyspnea, and hypoxia.

Answer 932

Pain and tenderness of the anterior chest at the costochondral or costosternal articulations ## Footnote Can follow viral illness or exercise, characterized by sharp pain, usually unilateral, and reproducible with palpation.

Answer 933

No swelling, sharp pain, usually unilateral, occurs at 4th-6th costochondral junctions, frequently resolves in a week or less ## Footnote Treatment typically includes NSAIDs.

Answer 934

Pain and swelling of the anterior chest wall, normally involving 2nd or 3rd costochondral junction on one side ## Footnote Preceded by infection, especially varicella.

Answer 935

Tietze syndrome includes swelling and can last months to years ## Footnote Costochondritis does not involve swelling and typically resolves quicker.

Answer 936

Sudden onset of severe, sharp, or shooting chest pain localized to a specific area over the left hemithorax ## Footnote Lasts 30 seconds to a few minutes and occurs at rest.

Answer 937

Worse with deep inspiration ## Footnote It is considered a benign condition.

Answer 938

Pain at the anterior tip of 8th, 9th, or 10th ribs ## Footnote Characterized by severe pain that lasts for hours or days.

Answer 939

Chronic, intermittent chest pain with tightness that worsens 5-10 minutes into recovery from exercise ## Footnote Deep substernal chest pain that lessens over the following 30 minutes.

Answer 940

Retrosternal chest pain that worsens when lying down ## Footnote Endoscopy may be performed when suspicion for esophagitis or gastritis arises.

Answer 941

* Antacids * H2 blockers * PPI ## Footnote These medications help alleviate symptoms of GERD.

Answer 942

Transient complete loss of consciousness and postural tone ## Footnote Syncope is characterized by a temporary reduction in blood flow to the brain.

Answer 943

Triggers include: * Injury * Fear * Pain * Anger * Distrust * Sight of blood * Swallowing cold food/liquid * Sudden decompression of a full bladder * Brushing hair ## Footnote These triggers can lead to severe bradycardia.

Answer 944

Symptoms include: * Dizziness * Weakness * Nausea * Blurred or tunnel vision * Rushing water-like sound in ears ## Footnote These symptoms often indicate an impending loss of consciousness.

Answer 945

Blood pressure falls, leading to pallor and clamminess, followed by tachycardia or profound bradycardia. ## Footnote This drop in blood pressure is a critical factor in the loss of consciousness.

Answer 946

Management includes: * Increasing fluid or salt intake * Discouraging caffeine * Using fludrocortisone and midodrine ## Footnote Fludrocortisone is a mineralocorticoid, while midodrine acts as an alpha agonist.

Answer 947

Syncope occurring with an abrupt postural change. ## Footnote This condition is often related to blood pressure changes when standing up.

Answer 948

Risk factors include: * Volume depletion * Impaired autonomic nervous system * Certain drugs (vasodilators, antiarrhythmics, antidepressants, cocaine, alcohol) ## Footnote These factors can contribute to sudden drops in blood pressure.

Answer 949

Tachycardia. ## Footnote This condition is marked by an excessive increase in heart rate upon standing.

Answer 950

Cardiac causes include: * Structural heart lesions (e.g., aortic stenosis, hypertrophic cardiomyopathy, TOF) * Arrhythmias (e.g., SVT, VT, sinus node dysfunction, AV block) ## Footnote These conditions can lead to serious complications, including syncope.

Answer 951

Symptoms include: * Chest pain * Dizziness * Palpitations ## Footnote These symptoms are important for diagnosis and management.

Answer 952

Tests include: * 24-hour Holter monitor * ECG * Echocardiogram if concerned for structural abnormalities ## Footnote These tests help identify underlying causes of syncope.

Answer 953

Conditions include: * Atypical seizures * Migraines * Hyperventilation * Hysterical syncope * Sudden rises in ICP * Breath holding spells ## Footnote Distinguishing these conditions from true syncope is crucial for accurate diagnosis.

Answer 954

Accessory pathway between atria and ventricle – leading mechanism of SVT in newborns, infants, and children ## Footnote SVT stands for supraventricular tachycardia.

Answer 955

Accessory pathway within the AV node – leading cause of SVT in adolescents and adults

Answer 956

HR less than 90 bpm in neonates and less than 60 bpm in child or adolescent ## Footnote Sometimes GERD can cause bradycardia in neonates.

Answer 957

Normal changes in sinus rate with breathing; disappears with breath holding

Answer 958

Early beats originating from the atrium; common during childhood and benign

Answer 959

Extra beats originating from the ventricle; common during childhood and benign

Answer 960

Abnormally rapid heart rhythm originating from the ventricle; affects 1/250 children during their lifetime

Answer 961

* AVRT infants (80%) and children (60%) * AVNRT rare before age 2 years, typically develops in older children and adolescents

Answer 962

* Palpitations * Lightheadedness * Syncope * Fatigue * Chest pain

Answer 963

* Regular rhythm * 220-280 bpm in infants * 180-240 bpm in older children * QRS complex narrow (less than 80 msec) * Cannot discern P wave

Answer 964

* Ice bag to face for 15-30 seconds in infants * Blowing into occluded straw or head down position for 15-20 seconds in older children

Answer 965

Direct current cardioversion

Answer 966

Caused by AVRT; accessory pathway (Kent bundle) conducts faster than AV node causing electrical current to reach ventricle sooner

Answer 967

* Asymptomatic * Palpitations * Lightheadedness * Dizziness * Presyncope * Syncope * Chest pain

Answer 968

* Delta wave * Widened QRS (greater than 0.12 seconds) * Short PR interval (less than 0.12 seconds)

Answer 969

Cardioversion is the best treatment; obtain echo first to assess for atrial thrombi unless hemodynamically unstable

Answer 970

230-420 bpm (up to 500 bpm in newborns) with 2:1 or 3:1 AV block

Answer 971

* Fatigue * Dizziness * Chest pain * Heart racing * Shortness of breath * Syncope

Answer 972

Immediate cardioversion

Answer 973

left atrium

Answer 974

Isolated beats originating within the ventricles but don’t cause sustained arrhythmias ## Footnote Symptoms include a flip flop feeling in the chest, skipped beats, and palpitations. Compensatory pause on ECG.

Answer 975

Do not need to treat if patient is asymptomatic, otherwise healthy, without evidence of underlying heart disease

Answer 976

3 or more sequential PVCs occurring at a regular rate of greater than 120 bpm

Answer 977

* Electrolyte disturbances * Myocardial disease (myocarditis or hypertrophic cardiomyopathy) * Ion channel disorders (long QT syndrome) * Post operative states * Ingestions * Hypoxia or ischemia * Idiopathic causes

Answer 978

* Dizziness * Shortness of breath * Lightheadedness * Palpitations * Chest pain

Answer 979

Irregular QRS complexes that appear to twist around the baseline ECG, associated with prolonged QT interval and prominent U wave

Answer 980

* Prolonged QT syndrome * Quinidine * Procainamide * Tricyclic antidepressants * Very low K * Very low Mg

Answer 981

* IV Mg * Cardioconversion

Answer 982

Rate 150-200 bpm

Answer 983

P wave and QRS complex have independent rhythms

Answer 984

High risk of sudden death

Answer 985

Treat like VF

Answer 986

* IV lidocaine * Procainamide * Amiodarone

Answer 987

Administer calcium followed by glucose and insulin to push potassium back into the cells then remove potassium via dialysis

Answer 988

* Correct electrolyte abnormality * Additional AADs * Radiofrequency ablation * Implantation of automatic internal cardioverter-defibrillator

Answer 989

Disorganized rhythm resulting in ineffective cardiac pumping and death

Answer 990

* Electrolyte abnormalities * Damage to the heart from ischemia * Congenital heart disease * Surgery

Answer 991

* CPR * Defibrillation * Amiodarone or lidocaine

Answer 992

Inherited disorder causing prolongation of the QT interval on ECG that puts patients at risk for VT (torsades de pointes) and ventricular fibrillation

Answer 993

* Genetic – mutations of genes coding for cardiac potassium and sodium ion channels * Medications * Electrolyte disturbances (elevated K)

Answer 994

* Dizziness/syncope with exercise * Acute emotions * Loud auditory stimuli * Seizures * Sudden cardiac arrest

Answer 995

QTc greater than 0.46 seconds

Answer 996

Reduce effects of catecholamines on the heart which in turn reduces the chance of a dangerous ventricular arrhythmia

Answer 997

Prolongation of the PR interval more than 200 ms

Answer 998

Prolongation of the PR interval until there is a drop

Answer 999

Normal PR intervals but periodic drop in QRS

Answer 1000

Pacemaker especially if child is symptomatic

Answer 1001

Surgical intervention is typically required.

Answer 1002

A hemolyzed specimen, thrombocytosis > 450,000 platelets/uL, or leukocytosis > 100,000 WBCs/uL ## Footnote Pseudohyperkalemia occurs when potassium is released from red blood cells, platelets, or white blood cells.

Answer 1003

Intracellular ## Footnote Potassium is primarily found within cells, which is significant in understanding its release during hemolysis.

Answer 1004

No ## Footnote Pseudohyperkalemia is not life-threatening and should be accurately recognized to prevent unnecessary treatments.

Answer 1005

It should be treated to avoid life-threatening cardiac complications ## Footnote True hyperkalemia is a critical condition that requires medical intervention.

Answer 1006

Potassium is released from red blood cells ## Footnote This release can falsely elevate potassium levels in laboratory tests.

Answer 1007

> 450,000 platelets/uL ## Footnote High platelet counts can contribute to the phenomenon of pseudohyperkalemia.

Answer 1008

> 100,000 WBCs/uL ## Footnote Elevated white blood cell counts can also lead to pseudohyperkalemia.

Answer 1009

recognized ## Footnote Accurate recognition is crucial to avoid unnecessary treatments for patients.

Answer 1010

Ovarian dysfunction, increased androgen production, abnormal secretion of gonadotropins

Answer 1011

* Anovulatory infertility * Menstrual dysfunction * Hirsutism * Acne

Answer 1012

Abnormal menstrual cycles with clinical or biochemical hyperandrogenism

Answer 1013

* Ovaries * Adrenal glands * Both

Answer 1014

Elevation in the free testosterone level

Answer 1015

* Insulin resistance * Hyperinsulinemia * Dyslipidemia

Answer 1016

* Type 2 diabetes mellitus * Cardiovascular disease

Answer 1017

* Acne * Clitoromegaly * Voice deepening * Male pattern hair loss * Increased muscle mass

Answer 1018

* Relative increase in luteinizing hormone (LH) * Decrease in follicle-stimulating hormone (FSH) * Elevated LH:FSH ratio of > 2.5:1

Answer 1019

Increased production of androgens from the theca-interstitial cells of the ovaries

Answer 1020

* Decreased levels of LH * Elevated levels of FSH

Answer 1021

A valuable biomarker for distinguishing bacterial from viral infections

Answer 1022

Above 0.5 ng/mL

Answer 1023

It is strongly suggestive of underlying B-thalassemia minor. ## Footnote HbAz is a type of hemoglobin that can indicate thalassemia when elevated.

Answer 1024

* Iron deficiency * Lead poisoning * Thalassemia trait * Anemia of chronic disease ## Footnote These conditions should be considered when evaluating a child with microcytic anemia.

Answer 1025

Findings on routine screening tests or clinical presentation. ## Footnote Clinical presentation may include symptoms like pallor, jaundice, and fatigue.

Answer 1026

* Red cell indices (microcytic, normocytic, or macrocytic) * Examination of the peripheral smear * Measurement of the reticulocyte count ## Footnote These components help in understanding the type and cause of anemia.

Answer 1027

* Production defects * Survival defects ## Footnote Understanding the type of defect is crucial for proper diagnosis and treatment.

Answer 1028

True ## Footnote Pallor is one of the common signs that may indicate anemia in a child.

Answer 1029

Excess milk consumption ## Footnote Excess milk consumption can lead to reduced iron absorption.

Answer 1030

Increased red blood cell distribution width (RDW) ## Footnote RDW can indicate variability in red blood cell size, which is common in IDA.

Answer 1031

Reduced serum ferritin levels and reduced serum iron levels ## Footnote Ferritin is a marker of stored iron in the body, while serum iron reflects the circulating iron.

Answer 1032

False ## Footnote IDA does not lead to increased levels of HbA2.

Answer 1033

Severely reduced (< 30%) or absent HbA, presence of HbS and increased HbF or HbC ## Footnote HbF is fetal hemoglobin, which can be elevated in certain sickle cell conditions.

Answer 1034

Less than 30% or absent

Answer 1035

Increased HbF

Answer 1036

A disorder of iron utilization.

Answer 1037

Often normal.

Answer 1038

By treating the chronic underlying condition.

Answer 1039

It usually leads to improvement in the anemia.

Answer 1040

Coarse basophilic stippling and an elevated blood lead level. ## Footnote These findings are significant indicators when diagnosing lead poisoning.

Answer 1041

Eating old paint chips. ## Footnote This behavior is a common source of lead exposure, especially in older homes.

Answer 1042

No. ## Footnote Lead poisoning does not affect HbA2 levels.

Answer 1043

coarse basophilic stippling and an elevated blood lead level.

Answer 1044

False. ## Footnote Clues such as eating old paint chips may be absent.

Answer 1045

Tethered cord, syringomyelia, spina bifida occulta, diastematomyelia ## Footnote These conditions are concerning for spinal dysraphism.

Answer 1046

Yes ## Footnote This is due to the tuft of hair being very concerning for spinal dysraphism.

Answer 1047

Dimples > 5 mm in size or > 2.5 cm above the anus ## Footnote Imaging is recommended for these size criteria.

Answer 1048

Ultrasound of the spine ## Footnote Ultrasound is often the first choice due to its accessibility.

Answer 1049

MRI of the spine ## Footnote MRI provides greater detail and sensitivity for spinal abnormalities.

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