1
Q
Gout, intellectual disability, self-mutilating behavior in a boy
A
Lesch-Nyhan syndrome
(HGPRT deficiency, X-linked recessive)
2
Q
Situs inversus, chronic sinusitis, bronchiectasis, infertility
A
Kartagener syndrome (dynein arm defect affecting cilia)
3
Q
Blue sclera, fractures, hearing loss
A
Osteogenesis imperfecta (type I collagen defect)
4
Q
arachnodactyly, lens dislocation (downward and inward) aortic dissection, hyper flexible joints, pectus excuvatum, intellectual disability, clots
A
Homocystinuria
4
Q
Arachnodactyly, lens dislocation (upward and temporal),
aortic dissection, hyperflexible joints, pectus excavatum
A
Marfan syndrome (fibrillin defect)
5
Q
Café-au-lait spots (unilateral), polyostotic fibrous dysplasia,
precocious puberty, multiple endocrine abnormalities
A
McCune-Albright syndrome (Gs -protein activating mutation)
6
Q
Calf pseudohypertrophy Muscular dystrophy (most commonly.
Child uses arms to stand up from squat
A
Duchenne, due to X-linked recessive frameshift mutation of
dystrophin gene
(Gowers sign)
7
Q
Slow, progressive muscle weakness in boys
A
Becker muscular dystrophy
(X-linked non-frameshift deletions in dystrophin; less severe
than Duchenne)
8
Q
Infant with cleft lip/palate, microcephaly or
holoprosencephaly, polydactyly, cutis aplasia
A
Patau syndrome (trisomy 13)
9
Q
Infant with microcephaly, rocker-bottom feet, clenched hands,
and structural heart defect
A
Edwards syndrome (trisomy 18)
10
Q
AML, cardiac defect, atlatoaxial instability, single palmar
crease, early onset alzheimers
A
Downs syndrome
11
Q
Patient with myalgias, experiences “Second wind”, cramps that improve after
10 min of activity, myoglobinuria
A
McArdle disease (skeletal muscle glycogen phosphorylase deficiency)
12
Q
Infant with marked hypoglycemia, also found to have hepatomegaly
A
Cori disease (debranching enzyme deficiency)
Von Gierke disease (glucose-6-phosphatase deficiency, more severe)
13
Q
Infant with hypertrophic cardiomyopathy
A
Pompe disease “Affects the pump”
lysosomal α-1,4-glucosidase deficiency
14
Q
Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of
femoral head, bone crises-looks similar to leukemia
A
Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency
15
Q
“Cherry-red spots” on macula, no hepatomegaly
A
Tay-Sachs
ganglioside GM2 accumulation
“onion-skin lysosome”
16
Q
“Cherry-red spots” on macula, + hepatomegaly
A
Niemann-Pick
sphingomyelin accumulation
“foam cells” macrophages
17
Q
5 day old has a bilirubin of 11, direct is 0.5. Exam shows
jaundice. Parents say he is eating and pooping normally.
Likely dx?
A
Physiologic jaundice
18
Q
5 day old has a bilirubin of 11, direct is 0.5. Exam shows
jaundice. Parents say he is eating and pooping normally. NSM?
A
Recheck bilirubin until levels peak and start to downtrend
19
Q
5 day old has a bilirubin of 11, direct is 0.5. Exam shows
jaundice. Parents say he is eating and pooping normally. Pathophys?
A
Reduced activity level of the newborn uridine diphosphate glucuronosy-ltransferase (UGT) enzyme (about 1% function of adults)->inability to conjugate all the bilirubin
20
Q
Total bilirubin continues to rise, first treatment to try?
A
Phototherapy
21
Q
Levels continue to rise further, now level is 30, what now?
A
Exchange transfusion
22
Q
5 day old has a bilirubin of 7, direct is 0.5. They are fussy with signs of dehydration and concerns for not gaining weight.
A
Breastfeeding Jaundice (lactation failure jaundice)
23
Q
5 day old has a bilirubin of 7, direct is 0.5. They are fussy with signs of dehydration and concerns for not gaining weight. Pathophys?
A
Not enough intake of breastmilk, therefore not enough stooling to remove bilirubin.
24
Clinical difference between patient with
breastfeeding jaundice and a patient with
breastmilk jaundice?
No signs of dehydration
25
patient with
breastmilk jaundice? Pathophys
High concentration of β-glucuronidase in breast milk or impaired conjugation of bilirubin in liver by breastmilk. Not fully understood.
26
5 day old has jaundice, failure to thrive,
and cataracts, dx?
Galactosemia
27
5 day old has jaundice, failure to thrive,
and cataracts. Tx
No lactose or galactose in the diet.
28
4 week old has jaundice ever since birth, Total Bilirubin 9. Direct bilirubin is 8. Exam
shows hepatomegaly and increased Transaminases and Alk phos, dx?
Biliary atresia.
29
4 week old has jaundice ever since birth,
Total Bilirubin 9. Direct bilirubin is 8. Exam
shows hepatomegaly and increased
Transaminases and Alk phos,
US, Liver biopsy which shows inflammation and bile duct degeneration.
30
Generally, how do immunodeficiencies
involving B-cells present?
Recurrent sinopulmonary infection,
enteroviruses
31
B-cell immunodeficiencies conditions ?
X-linked (Bruton’s) agammaglobulinemia,
CVID
32
How do Bruton’s (XLA) and CVID differ
clinically and diagnostically?
X-linked agammaglobulinemia presents
mainly in boys, have complete deficiency of
mature B cells.
Bs: Brutons, B cells, Boys (X linked)
33
How do T-cell disorders present?
Recurrent viral, bacterial, and fungal
infections (candida, PJP), failure to thrive
33
CVID presents later (20-40 years) patients Have normal B cell levels but low levels of IgG, IgA, and IgM. Tx for both?
IVIG
34
Common T-cell disorders?
HIV, SCID, DiGeorge
35
6 month old with absent thymus,
hypocalcemia, and VSD? Decreased Tlymphocytes. Dx?
DiGeorge Syndrome
36
6 month old with absent thymus,
hypocalcemia, and VSD? Decreased Tlymphocytes.
Pathophys?
22q11 microdeletion
37
Clinical Features of DiGeorge
Catch-22 (Cardiac defects, Abnormal face,
Thymic hypoplasia, Cleft Lip/palate,
Hypocalcemia)
38
child with gait ataxia, hypotonia,
spider angiomas, and IgA deficiency, dx?
Ataxia Telangiectasia
39
cell type of Ataxia Telangiectasia
B and T cell
40
Ataxia Telangiectasia findings
ATM Gene,
Ataxia,
Angiomas,
IgA deficiency
41
with recurrent otitis media and
eczema, CBC showed thrombocytopenia, dx?
Wiskott-Aldrich Syndrome
42
Wiskott-Aldrich Syndrome pathophys?
Defective WAS gene, impaired actin
cytoskeleton
43
child with thrush, failure to
thrive, hx of multiple episodes of
gastroenteritis, absent tonsils and CXR
shows absent thymic shadow dx?
SCID
44
SCID Definitive tx?
Bone marrow transplant.
45
with recurrent staph, pseudomonas,
aspergillus infections, Exam shows
lymphadenopathy, dx?
Chronic Granulomatous Disease
46
CGD bug types?
cat pos
47
CGD pathophys
Def. NADPH oxidase
48
with recurrent infections, delayed
cord separation, and poor wound healing, lacking
pus at infection sites, dx?
Leukocyte adhesion deficiency
49
LAD lap?
Leukocytosis, but neutrophils absent at the site of infection.
50
with recurrent staph, strep infections,
partial albinism, and neuropathy, dx?
Chédiak-Higashi syndrome
51
Chédiak-Higashi syndrome pathophys
Defective lysosomal trafficking regulator (LYST) gene
52
Chédiak-Higashi syndrome Next step in dx?
Blood Smear, would show giant cytoplasmic granules in granulocytes and platelets.
53
teenage with sore throat, posterior cervical
lymphadenopathy, fever.
Mononucleosis
53
Mononucleosis
Confirmatory test?
Monospot (most accessible)
Heterophile pos
54
mcc of mono: Pathogen?
EBV or CMV virus
55
When can mono pt go back to playing football?
4 weeks, risk of rupturing spleen
56
child with a recent cold presents with a
barking cough, stridor, and hoarseness, dx?
Croup, parainfluenza virus
57
What would croup imaging show?
Subglottic narrowing (steeple sign)
58
Next step if mild croup
Dexamethasone and supportive care
59
If more severe Croup (inspiratory stridor at rest)?
Racemic epinephrine
60
child with a sore throat, fever, and tender Cervical lymphadenopathy, Dx?
Group A Strep Pharyngitis
61
Next step in management of GAS?
Rapid Strep test and throat
culture
62
TX GAS?
amoxicillin
63
untreated GAS, 2 days later in addition, has a sandpaper-like rash, strawberry tongue. Elevated antistreptolysin O titers, Dx?
Scarlett Fever
64
Scarlett Fever Tx?
Oral Penicillin V
65
untreated sore throat 1 month ago, now has joint pain, fever, and subcutaneous nodules, cardiac ,Chorea dx?
Acute rheumatic fever
66
acute rheumatic fever Pathophys?
Molecular mimicry --> Type 2 hypersensitivity reaction
Diagnostic Criteria?
JONES Criteria
67
child with coughing spells followed
by an inspiratory gasp, sometimes vomiting, dx?
Pertussis
68
Next Step in pertussis treatment?
Azithromycin, PCR test to confirm dx
69
What should close contacts of pertussis get?
Azithromycin prophylaxis within 21 days of exposure
70
Unvaccinated 10-year-old presents with fever, headache, and swelling of the cheeks and jaw area for 5 days
Mumps
71
mumps Tx?
Supportive
72
mumps Complications?
Orchitis, can lead to infertility
Pancreatitis
73
infant with a recent history of nasal congestion and cough that has progressed to wheezing, rapid breathing, and retractions, CXR shows peribronchial
thickening, dx?
RSV bronchiolitis
74
RSV treatment?
Supportive, admit if severely dehydrated for fluids
Palivizumab for high risk (premature,
immunocompromised)
75
RSV Complications?
Increased risk for apnea in very young infants Increased asthma risk
76
with sudden onset fever, sore
throat, drooling, muffled voice, and difficulty breathing. Sitting upright and leaning forward, next step?
Assess airway, Oxygen, Intubate still in distress
77
Lateral neck X ray shows Thumb Sign: mcc
Haemophilus influenzae type b (Hib) bacteria
78
with symmetrical finger joint pain, fever and a rash which started on the cheeks, now has lace-like rash on the arms and trunk.
Fifth Disease
79
Fifth Disease Pathogen? TX?
Parvovirus B-19
Tx is supportive, often associated with ARTHRALGIA
80
B-19 fetus
hydros fettles
aplastic crisis-->high output hrt failure--> fluid shift
81
with fever, sore throat, decreased
appetite, followed by the appearance of small red vesicles on the palms, soles, and inside the mouth, dx?
Hand foot and mouth disease
Coxsackie A virus
82
Koplik, cough, coryza (running nose), conjunctivitis
measles (Rubeola)
83
with high fever, cough, runny nose,
conjunctivitis, followed by a morbilliform rash that started on the face and spread downward, also has small white spots on buccal mucosa. Did not get all vaccines
measles
84
late complications of measles
Subacute sclerosing panencephalitis (SSPE) * Presents 7-10 years following infection. Fatal.
Pneumonia
85
When is rubella infection most common in pregnancy?
1st trimester
86
How does congenital rubella present?
Sensorineural hearing loss, cataracts, and cardiac:PDA
87
with 4 days of
fever, cold symptoms, swollen lymph
nodes behind the ears, and a
morbilliform rash that started today
on the face and spread to the rest of
the body, dx?
Rubella
Can present with Forchheimer spots
88
Congenital rubella syndrome?
Sensorineural deafness, CATARACTS, blueberry muffin rash,
microcephaly.
89
Prevention?
Vaccination before pregnancy (not given during) Screen for rubella abs at first prenatal
90
A neonate presents with chorioretinitis, diffuse intracranial calcifications and hydrocephalus on MRI, dx?
Toxoplasmosis
91
Toxo tx?
pyrimethamine, sulfadiazine, and folinic acid
92
Toxo prevention
Avoid raw meat, shellfish, cats, wash
fruits/veggies
93
prevent toxo fetal transmission, tx mom with?
spiramycin
94
Neonate presents with hypertrophic scars, cataracts, limb hypoplasia, microcephaly, and chorioretinitis.
VZV
95
Neonate presents with hypertrophic scars, cataracts, limb hypoplasia, microcephaly, and chorioretinitis. tx?
Acyclovir
96
Congenital CMV syndrome?
Sensorineural deafness, blueberry muffin rash, microcephaly,
97
periventricular calcifications, NO CATARACTS!
CMV
98
Neonate presents with vesicular skin lesions, seizures, lethargy, and jaundice.
HSV
99
HSV Tx?
Acyclovir or valacyclovir
100
How is genital HSV transmitted at birth?
Via genital tract lesions, NOT transplacental
101
What to do if mother has known HSV hx?
Acyclovir @ 36 weeks, continue until labor.
C-section: active genital lesions, prodromal symptoms (vulvar burning/pain)
102
Neonate presents with jaundice, hepatosplenomegaly, rash, nasal discharge ("snuffles"), and periostitis on radiographs. Also has morbilliform rash on hands and soles, dx?
Syphilis (Early)
103
syphils Tx?
10 days of Penicillin G
104
How would late congenital syphilis present?
2 years of age or greater and Hutchinson's teeth, saddle
nose deformity, frontal bossing, interstitial keratitis,
sensorineural hearing loss.
105
How does primary syphilis present?
Painless Chancre
106
secondary syphilis present?
Secondary: Morbilliform rash, condylomata lata, patchy alopecia
107
syphilis Screening?
1st trimester universal can do RPR/VDRL or FTA-ABS
108
syphilis tx?
ONLY penicillin (if allergy, undergo desensitization)
109
syphilis Complication of tx?
Jarisch-Herxheimer rxn, B sx, tachycardia, tachypnea, hypotension
110
Newborn with hypotonia, flat facial profile, up slanting palpebral fissures, epicanthal folds, ASD, single palmar crease, and a gap between the first and second toes
Down Syndrome, Trisomy 21
111
Tri 21Biggest Risk Factor?
Advanced maternal age
112
Tri 21 GI organ conditions associated?
Hirschsprung's Disease, Duodenal Atresia, Annular pancreas.
113
Newborn with micrognathia, low-set ears, clenched fists with overlapping fingers, and rocker-bottom feet. Cardiac examination reveals a ventricular septal defect, dx?
Edwards Syndrome, Trisomy 18
114
Newborn with microphthalmia, cleft lip and palate, rocker
bottom feet, polydactyly, and VSD. Also missing area of
skin on scalp. Dx?
Patau, Trisomy 13
115
Tri 21 marker 1st tri
hi B-hCG, low PAPP-A
116
Tri 21 Marker 2nd tri
low AFP, Estriol
hi B-hCG, hi inhibin A
117
teen girl with short stature, coarctation of the aorta, webbed neck, short 4th
fingers bilaterally, and widely spaced nipples. Concerns for lack of menses.
Turner Syndrome (45, X0)
118
45 XO Phenotype pathophys of amenorrhea?
Streak ovaries, Primary ovarian insufficiency ↓ estrogen,
↓androgens, ↑ FSH, ↑ LH
119
A 5-year-old with broad forehead, full cheeks, and a wide mouth with spaced teeth. Is highly sociable and sensitivity to loud sounds. Has supravalvular aortic stenosis, labs show hypercalcemia dx?
Williams
Deletion at chromosome 7
120
Newborn with low birth weight, microgenia, microcephaly, single palmar crease, wide spaced eyes, broad nasal bridge, downward slanting palpebral fissures, and a high-pitched, cat-like cry. Echo shows VSD, dx?
Cri-du-chat
121
A 16-year-old tall adolescent with long limbs, joint
hypermobility, and a history of frequent joint dislocations.
Physical exam reveals pectus excavatum, scoliosis, and
superior lens subluxation, normal intelligence, dx?
Marfan Syndrome
Most common cause of death?
Cardiac complications from aortic aneurysms and aortic
dissections.
122
Marfan Syndrome Most common cause of death?
Cardiac complications from aortic aneurysms and aortic dissections.
123
Marfan-like but has intellectual disability, light skin, and downward lens subluxation.
Homocystinuria
124
2-year-old with developmental delay, minimal speech,
frequent laughter, and a happy demeanor. Physical exam
reveals ataxic gait, microcephaly, wide mouth, strabismus,
and spaced teeth
Angelman syndrome
Maternal micro deletion
124
15 year old female with hyperextensible skin, joint hypermobility and easy bleeding, normal height and weight for age.
Hypermobile EDS
125
3-year-old with hypotonia, developmental delay, likes to eat, early signs of obesity. Physical exam shows almond-shaped eyes, small hands and feet, dx?
Prader-Willi syndrome
126
6-month-old with weak cry, and difficulty swallowing,
minimal limb movement and a "floppy" appearance.
Physical exam reveals absent deep tendon reflexes and
tongue fasciculations, dx?
Spinal muscular atrophy (SMA)
127
multiple fractures after minor
trauma, blue sclerae, and short stature. Physical exam reveals joint laxity and bowing of the limbs, dental exam
shows brittle opalescent teeth, dx?
osteogenesis imperfecta
128
Spinal muscular atrophy (SMA) Pathophys?
Degeneration of lower motor neurons at the anterior horn
129
Premature neonate with rapid breathing, nasal flaring, grunting, and intercostal retractions shortly after birth. Chest X-ray reveals a ground-glass appearance with air bronchograms, dx?
Neonatal respiratory distress syndrome (NRDS)
130
NRDS pathophys
Surfactant Deficiency
131
prevent NRDS with
Corticosteroid administration for lung maturation
132
NBS after birth for NRDS
Nasal CPAP
133
NRDS after Nasal CPAP does not work
Intubation and artificial surfactant.
134
Term newborn with tachypnea, mild retractions, and nasal flaring within the first few hours after a cesarean delivery. Chest X-ray shows prominent pulmonary vascular markings and fluid in the fissures, Dx?
Transient tachypnea of the newborn (TTN)
135
Transient tachypnea of the newborn (TTN) pathophys
Delay in resorption and clearing of fluid from lungs.
136
Transient tachypnea of the newborn (TTN) tx
Supportive care
137
Premature infant with intermittent episodes of apnea, bradycardia, and
desaturation starting on day two of life. Episodes often resolve with stimulation, dx?
Apnea of Prematurity
138
Apnea of Prematurity pathophys
Immature control of respiratory function
Tx is supportive care
139
Term newborn with cyanosis and resp distress shortly after birth, green amniotic fluid
meconium aspirations syndrome
140
Term newborn echo shows significant right-to-left shunting at the ductus arteriorsis
persistent pulmonary hypertension of the newborn
141
CXR finding of meconium aspiration
Asymmetric patchy infiltrates
142
2-year-old develops coughing, wheezing, and difficulty breathing. Physical exam reveals decreased breath sounds
on the right side and inspiratory stridor, dx?
Foreign Body Aspiration
143
NSM for foreign body aspiration
ABCs, avoid positive pressure ventilation, if stable, bronchoscopy for removal
144
Newborn with severe respiratory distress and cyanosis shortly after birth, with a scaphoid abdomen and decreased breath sounds on the left side. Next steps?
US or X-Ray
145
Chest X-ray reveals bowel loops in the thoracic cavity, dx?
congenital diaphragmatic hernia
146
sudden onset of episodic, severe abdominal pain and inconsolable crying. vomiting and a recent passage of bloody mucoid stool. PE: palpable, sausage-shaped mass in the right upper quadrant, dx?
Intussusception
147
Intussusception NSM?
US, would should a target sign
148
TX of Intussusception
NG decompression, if still actively in pain AIR ENEMA
149
4-yo with a hs of passing hard, infrequent stools, with intermittent diarrhea as well. abdominal distension with palpable stool in the left lower quadrant, and a rectal exam shows firm stool, dx?
Functional Constipation
1st line Pharmacotherapy?
150
Functional Constipation
1st line Pharmacotherapy?
Polyethylene glycol
151
2-month-old breastfed infant has frequent, loose stools containing blood and mucus. No vomiting or fever, but fussiness after feeds. normal growth parameters, dx?
Food protein-induced allergic proctocolitis
152
Food protein-induced allergic proctocolitis pathophys
Non-IgE-mediated food allergy
153
Food protein-induced allergic proctocolitis tx
Elimination of all dairy products from mom’s diet, can also do hydrolyzed formula if formula fed.
154
Nest step for Newborn with failure to pass meconium within the first 48 hours of life, abdominal distension, and bilious vomiting, X-ray shows dialed small bowel loops?
Contrast enema
Shows microcolon,
155
Newborn with failure to pass meconium within the
first 48 hours of life, abdominal distension, and
bilious vomiting, X-ray shows dialed small bowel
loops Contrast enema
Shows microcolon, dx?
Meconium Ileus
156
Most common cause of Meconium Ileus?
Cystic fibrosis (90% of cases)
157
Newborn with failure to pass meconium within the
first 48 hours of life, abdominal distension, and
bilious vomiting, DRE reveals large expulsion of
stool, tight anal sphincter, dx?
Hirschsprung's Disease
X-Ray findings?
Decreased air in rectum.
Next steps in dx?
Suction rectal bx
158
Trisomy 21 has bilious vomiting and
no passage of meconium within the first 24 hours of life. Hx of polyhydramnios. Physical exam reveals a distended abdomen, X-ray shows a "double bubble"
sign, dx?
Duodenal Atresia
159
Trisomy 21 has bilious vomiting and
no passage of meconium within the first 24 hours of life. Hx of polyhydramnios. Physical exam reveals a distended abdomen, X-ray shows triple bubble sign?
Jejunal atresia
160
2-week-old infant with sudden onset of bilious vomiting, severe abdominal pain, and lethargy. Physical exam reveals a distended, tender abdomen, upper GI series shows a corkscrew appearance of
the duodenum, Dx?
Midgut volvulus
161
2-week-old infant with sudden onset of bilious vomiting, severe abdominal pain, and lethargy. Physical exam reveals a distended, tender abdomen, NSM?
upper GI series :
shows a corkscrew appearance of
the duodenum
162
Midgut volvulus risk factor
Malrotation
163
3-year-old with painless rectal bleeding, passing dark red stools intermittently over the past few days. Physical exam is unremarkable, with no abdominal tenderness. Next steps?
XR unremarkable, technetium-99m pertechnetate scan positive
164
3-month-old with frequent, effortless regurgitation after feedings but remains generally content, feeding well, and growing normally. Parents note occasional spit-ups without distress, dx?
GERD
164
Meckel’s Diverticulum Pathophys?
Patent remnant of omphalomesenteric duct.
165
GERD NSM?
Maintain infant in upright position for 20-30 min after feeds
166
4-month-old with regurgitation after feedings, irritability, arching of the back, and poor weight gain. Also coughs
and chokes during feeds.
GERD
167
GERD NSM?
Positioning Therapy, food thickeners, avoidance of secondhand smoke. PPIs if severe
168
5-week-old infant with progressively worsening nonbilious, projectile vomiting after feedings, followed
by persistent hunger. Physical exam reveals a palpable “olive-like” mass in the right upper abdomen, dx?
Pyloric Stenosis
169
pyloric stenosis NSM?
US, shows thickened pyloric muscle.
Definitive Tx?
170
pyloric stenosis tx?
Pyloromyotomy
171
Newborn has a midline abdominal wall defect covered by a membranous sac containing intestines, along with, hypotonia, and a single palmar crease. Genetic testing confirms trisomy 21, Dx?
Omphalocele,
associated with trisomy 13, 18, 21,
and Beckwith Weidman syndrome.
172
Omphalocele,
Wrap sac with wet dressings and plastic wrap, surgery within 24 hours.
173
Omphalocele, pathophys
Impaired closure of umbilical folds in utero causing
persistent herniation of midgut derivatives
174
Newborn with an abdominal wall defect to the right of the umbilicus, exposing erythematous bowel loops without a covering membrane, dx?
Gastroschisis
174
Gastroschisis Pathophys?
Too small peritoneal cavity, bowel ruptures at the weakest point in the anterior abdominal wall.
175
15-year-old with primary amenorrhea, tall stature, minimal pubic and axillary hair, and otherwise normal female breast development and external genitalia.
Physical exam reveals absent uterus and ovaries on ultrasound, dx
Androgen insensitivity syndrome (AIS)
176
Androgen insensitivity syndrome (AIS) Pathophys?
46,XY genotype, but Androgen receptor dysfunction
177
Androgen insensitivity syndrome (AIS) tx?
Hormone therapy, Gonadectomy of undescended testes
after puberty as increased risk of malignancy
178
1 Week old boy brough to the ED with vomiting and
decreased oral intake. He appears dehydrated and
hypotensive. Labs show hyponatremia and hyperkalemia.
Dx?
CAH
179
Most common CAH Pathophys?
21 hydroxylase deficiency, can’t make aldosterone or cortisol, precursors get shunted to androgen production in
the zona reticularis.
180
CAH present in XY genotype?
XY would have normal male external genitalia with precocious puberty from androgen excess
181
CAH present in XX genotype?
XX would have clitoromegaly and/or male genitalia with uterus and ovaries
182
CAH LH and FSH levels
low
183
12-year-old presents with abdominal pain, nausea, vomiting, and deep, Kussmaul respirations. Physical exam
reveals dehydration, fruity odor on the breath.
Lab results how hyperglycemia, ketonuria, and metabolic acidosis,
Dx?
DKA from T1D
184
DKA from T1D NSM?
Fluids, Potassium, Insulin
185
17-year-old male with tall stature, gynecomastia, small testes, and sparse facial hair. Laboratory testing reveals low testosterone levels and elevated gonadotropins
Klinefelter
186
Klinefelter Pathophys?
47,XXY, testicular abnormal development leads to loss of Sertoli cells and Leydig cell dysfunction. Leads to increased LH and FSH which converts testosterone to
estrogen.
187
18-year-old female with primary amenorrhea and normal breast development but absent pubic and axillary hair. Pelvic ultrasound reveals the absence of a uterus and upper vaginal canal, while ovaries are present, dx?
Müllerian agenesis
187
18-year-old female presents withirregular menstrual cycles, acne, and excessive hair growth on the face and body (hirsutism). Physical exam reveals obesity, acanthosis nigricans, labs show elevated A1c and androgens.
PCOS
188
PCOSTx?
Oral contraceptives (antiandrogen) and/or Metformin
(improves irregular menses)
189
18-year-old female with primary amenorrhea, lack of
breast development, absent sense of smell. Physical exam
reveals minimal axillary and pubic hair, Labs show
decreased GnRH, FSH, LH, and testosterone. Dx?
Kallman Syndrome
190
Pathophys?
Decreased migration of GnRH releasing neurons to the hypothalamus
191
Kallman Syndrome Tx?
Hormone therapy
192
Bending stress causes incomplete fracture partially through width of bone
Greenstick fracture
193
Axial force causes simple buckle fracture of cortex
Torus fracture
194
Spiral fracture in ambulatory children < 3yo 2/2 twisting injury from low impact fall
Toddler’s fracture
195
child yanked by arm with elbow pain and holds arm close to body in elbow flexion and pronation, Dx?
Radial head subluxation
196
Radial head subluxation Tx?
Reduction = hyperpronation or supination + elbow flexion
196
Radial head subluxation Pathophysiology?
Children <5 have an immature annular ligament prone to injury with traction
197
3 mo firstborn female born
breech with asymmetric
thigh creases, Dx?
Developmental dysplasia/dislocation of hips
198
Developmental dysplasia/dislocation of hips Pathophysiology?
Abnormal acetabulum development in newborns
199
PExam in Developmental dysplasia/dislocation of hips?
Uneven gluteal folds, leg length discrepancy, + Barlow/Ortolani
200
Dx of DDH?
US prior to 4-6 mo, XR after
201
TX of DDH?
< 6 mo: Pavlik harness or rigid brace, 6-18 mo: closed reduction, > 18 mo: surgery
202
Newborn with plantar flexed feet w/ adducted and IR forefoot, dx?
Talipes equinovarus (club foot)
203
Talipes equinovarus (club foot)
Pathophysiology?
Abnormal development of the talus bone.
204
Talipes equinovarus (club foot) risk?
Multifactorial – includes genetics, intrauterine packing (ie. Oligohydramnios)
205
Talipes equinovarus (club foot) TX
Serial casting, often followed by long term bracing. Surgical correction if refractory or recurrent
206
Newborn with medial deviation of the forefoot with neutral positioning of hindfoot
Dx?
Metatarsus Adductus
207
Metatarsus Adductus Tx?
Reassurance
208
13 yo F lands after a jump and develops immediate knee pain. Heard pop, large painful immobile deformity on lateral part of leg. Large divot over trochlea. Dx?
Patellar dislocation, commonly 2/2 media petelofemoral tear
208
Patellar dislocation, commonly 2/2 MPFL tear Tx:
Often reduces spontaneously, closed reduction if refractory w/ splinting and PT
209
Adolescent basketball player with pain when squatting or extension against resistance. No hx of trauma. TTP over the tibial tubercle. Dx?
Osgood Schlatters
Pathophysiology?
210
Osgood Schlatters
Pathophysiology?
Repetitive traction at the tibial tubercle 2/2 quadriceps contraction leading to avulsion and fragmentation
211
Osgood Schlatters TX
RICE, PT, generally resolves spontaneously
212
5-year-old with acute onset of knee pain, swelling, and refusal to bear weight, accompanied by fever. Physical exam reveals warmth, erythema, and limited range of motion in the knee, Next Steps?
CBC, CRP, ESR, BC, arthrocentesis
213
Arthrocentesis shows yellow green fluid with WBC with left shift. Dx?
Septic Arthritis
214
Septic Arthritis Tx?
Cefazolin or Vancomycin/Cefotaxime if MRSA possible.
215
3-8 yo, preceding viral prodrome, afebrile-low grade
fever, limp, hip pain, holds leg in flexion/ER
(maximizes joint space), Dx?
Transient synovitis
216
Transient synovitis Labs?
Normal Imaging? Small effusion on US
217
Transient synovitis TX?
NSAIDs - spontaneously resolves in 1-2 weeks
218
Legg Calve Perthes XR findings?
normal early, femoral head
flattening/fragmentation/sclerosis late. MRI: AVN
219
3-12 yo, insidious hip pain, limp, limited hip abduction and IR, + Trendelenburg. Dx?
Legg Calve Perthes
220
Legg Calve Perthes TX
Non weight bearing, splinting with possible surgery
221
Obese adolescent w/ dull hip pain, referred knee pain, limp, limited IR causing foot to point laterally, dx?
Slipped capital femoral epiphysis
222
CXR findings Slipped capital femoral epiphysis?
Posteriorly displaced femoral head.
223
Slipped capital femoral epiphysis TX?
Non-weight bearing, surgical screw fixation of physis.
Cx: AVN, OA
224
Scoliosis clinical features?
asymmetry of shoulders, scapula, iliac crest. Forward Bend Test shows asymmetric thoracic or
lumbar prominence
225
Scoliosis clinical features? Dx?
XR w/ Cobb angle measurement
10-30 deg = mild
>30 deg = moderate
40-50+ deg = severe
226
Scoliosis TX?
Mild: monitor every 6 mo
Moderate: thoracolumbosacral spinal brace
Severe: surgical fixation
227
Scoliosis Risk factors of progression:
Female, age <12, early puberty, skeletal
immaturity, severe curvature
228
Gymnast or diver with chronic back pain worsened on lumbar extension with palpable step off, Dx?
Spondylolisthesis
229
Spondylolisthesis Pathophysiology?
Anterior displacement of the vertebral bodies often 2/2 b/l spondylosis (ie. Pars interacrticularis fracture)
230
Spondylolisthesis Risk factors?
Repetitive back extension/rotation (gymnast/diver), adolescent growth spurt
231
Spondylolisthesis Imaging?
CXR
232
Spondylolisthesis Tx?
activity mods, analgesia, MRI if neuro deficits
233
Lower back and buttock pain for a few months worse with activity and improves with rest. Associated with leg weakness and hyporeflexia. Subcutaneous mass over the low back with new onset scoliosis. Dx?
Closed spinal dysraphism (ie. Tethered cord)
234
Closed spinal dysraphism NSM?
MRI
235
Insidious onset low back pain associated with morning stiffness worse with rest. SI joints are especially tender. Dx?
Ankylosing spondylitis
236
Ankylosing spondylitis imaging shows?
Fusion of vertebral bodies with ossification of intervertebral discs = Bamboo spine, widening of
SI joints
237
Ankylosing spondylitis lab
HLA B27
238
Ankylosing spondylitis TX
Exercise, NSAIDs
239
Refractory Ankylosing spondylitis
TNF inhibitors, other biologics
240
Ankylosing spondylitis associated with
Enthesitis, reduced chest expansion, uveitis
241
Adolescent male with proximal femur pain, worse
at night, improves with NSAIDs, unrelated to
activity. XR shows small round lucency, Dx?
Osteoid Osteoma
242
Osteoid Osteoma TX?
NSAIDs, monitor for resolution
243
Pelvis or long bone diaphysis pain and swelling, worse with activity, does NOT respond to NSAIDs. X-ray shows “moth eaten” lesions Dx?
Ewing Sarcoma
244
Ewing Sarcoma imaging
Extensive bony involvement with onion skinning 2/2 new subperiosteal bone formation. “Moth eaten” appearance with extension into soft tissue
245
Osteosarcoma Associated with Rb/P53 gene mutations; Paget disease, radiation Other XR?
bony destruction with sunburst pattern of periosteal reaction (ie. Spicules of ossified fibers) and/or Codman triangle (raised edge of ossified periosteum).
245
Adolescent with Chronic localized pain and soft tissue mass, X-ray shows Codman triangle, Dx?
Osteosarcoma
246
Young adult with pain, swelling, stiffness in long bones, XR shows ”soap bubble” lesions, Dx?
Giant Cell Tumor of Bone
247
Giant Cell Tumor of Bone XR?
Eccentric lytic lesions with soap bubble
appearance at the epiphysis of long bones.
248
Giant Cell Tumor of Bone Dx?
Biopsy w/ multinucleated giant cells
249
Giant Cell Tumor of Bone TX?
surgery, denosumab can shrink tumors
250
2-year-old with delayed walking, bowed legs, and growth delay. Physical exam reveals widened wrists, dx?
Rickets
251
Rickets Lab findings?
low vitamin D, low calcium, and elevated alkaline phosphatase
252
Rickets Tx?
Vitamin D
253
child with intermittent joint pain and swelling, particularly in the knees and wrists, morning stiffness that improves throughout the day. Has a 3 month history of fevers at the same time every day. Physical exam reveals joint tenderness, swelling, and limited range of motion, and faint pink rash on torso, dx?
Juvenile Idiopathic Arthritis
254
Juvenile Idiopathic Arthritis pathophys
Autoinflammatory disease leads to chronic synovial inflammation
255
A newborn with soft, diffuse swelling across the top of the head, crossing suture lines, noted shortly after birth. The swelling is non-tender, dx?
Caput succedaneum
256
Caput succedaneum Pathophys
Edema between skin and aponeurosis
257
Newborn with extensive, fluctuant swelling over the scalp and neck, crossing suture lines and increasing in size over
several hours, dx?
Subgaleal hemorrhage
258
Subgaleal hemorrhage
Pathophys?
Rupture of emissary veins, between periosteum and
aponeurosis
259
Newborn with a firm, well-defined swelling over the right
parietal bone that does not cross suture lines, noted
shortly after birth. The swelling is confined to one side
and is non-tender, dx?
Cephalohematoma
260
Cephalohematoma Pathophys?
Rupture of vessels between bone and periosteum
261
spasticity in the lower limbs, hyperreflexia, hx of intracerebral hemorrhage as neonate, dx?
Cerebral Palsy
262
progressive muscle weakness,
difficulty releasing grip, and hallowed cheeks. Physical
exam reveals myotonia, cataracts, and balding, dx?
Myotonic dystrophy
263
Myotonic dystrophy
Pathophys?
CTG nucleotide repeat expansion.
264
5-year-old boy with frequent falls, difficulty climbing stairs, and a Gower’s sign (using hands to push up from
the floor). Physical exam reveals calf pseudohypertrophy and markedly elevated creatine kinase, dx?
Duchenne muscular dystrophy
265
Duchenne muscular dystrophy Pathophys?
X linked recessive dystrophin gene mutation
266
Duchenne Prognosis?
Inability to walk by 12, Dilated cardiomyopathy common
cause of death
267
12-year-old boy has progressive muscle weakness,
particularly in the pelvis and thighs, but is still able to
walk independently. Physical exam shows calf
hypertrophy and mildly elevated creatine kinase levels,
dx?
X-linked Becker muscular dystrophy, slower progression than
Duchenne's
268
3 yo M presents to the ED with convulsions that lasted 3
minutes. Sleepy and confused afterward. Has had rhinorrhea and fever for past day. Dx?
Febrile Seizure
269
Febrile Seizure: Simple or Complex?
Simple
270
Complex seizures definition?
> 15 min, > 1 seizure within 24 hr, any focal seizure, post ictal phase (slow return to baseline)
271
Management of simple febrile seizure?
Symptomatic care and reassurance, abortive therapy if >5 min.
272
Adolescent with paralysis of upward gaze, ataxia, HA, emesis, and papilledema?
Parinaud syndrome
273
Parinaud syndrome(can’t look up)
Pathophys?
Lesion in superior colliculus/pretectal area (e.g.,
pinealoma)
274
1 year old with flat, hyperpigmented macules,
axillary freckling, pigmented iris hamartomas?
Neurofibromatosis 1
275
visual disturbances, hyperpigmentation, axillary freckling screen for
optic glioma
276
18 y/o F with tinnitus, hearing loss, and
vertigo?
Neurofibromatosis 2
277
Child with seizures, hypopigmented lesions on trunk/extremities, red nodules on nose/cheeks, and learning disability?
Tuberous sclerosis
277
NF2 NSM?
MRI brain and spine w/ contrast -> bilateral vestibular schwannomas
278
Tuberous sclerosis Associated CNS neoplasm?
Subependymal giant cell astrocytoma (5-15% of patients)
279
10yo F with seizures, intellectual disability, and a red/purple patch on the right side of the face, dx?
Sturge-Weber syndrome
280
Von Hipple-Lindau Other HY associations?
Bilateral renal cell carcinoma and
pheochromocytoma
280
Sturge-Weber syndrome Classic MRI findings?
Leptomeningeal angioma (“tram track appearance”)
281
Syndrome associated with hemangioblastomas?
Von Hipple-Lindau
282
3-year-old with intermittent eye misalignment noted by
parents, where one eye occasionally drifts inward,
particularly when the child is tired. Physical exam reveals
a noticeable esotropia on cover-uncover test, dx?
Strabismus
283
Strabismus TX
Glasses, Patch unaffected eye to train weaker eye.
Complications?
Amblyopia
284
6-month-old with poor feeding, constipation, progressive generalized weakness, weak cry with decreased head control. Recently was fed homemade honey.
Botulism
285
Botulism Tx?
IV Human Botulism Ig
caused be spores
286
1 week old has a machine-like murmur. Dx?
Patent ductus arteriosus
286
Patent ductus arteriosus TX
NSAIDs (indomethacin for closure of PDA)
287
Newborn with DiGeorge syndrome presents with cyanosis, systolic murmur at the Left sternal border with thrill, single S2 heart sound, tachypnea, feeding difficulties, dx?
Truncus Arteriosus
Associated with 22q11.2 microdeletion
288
5-month-old patient presents due to parents noticing episodes of turning blue around the lips, especially when crying, dx?
Tetralogy of Fallot
289
TOF Pathophys?
PROV: Pulmonary stenosis, Right ventricular hypertrophy, Overriding aorta, and Ventricular septal defect
290
TOF presentation
Cyanosis, Tet spells, digital clubbing
291
TOF x-rays findings
Boot shaped Heart dt RVH
292
A 1-day old infant has perioral cyanosis and oxygen desaturation. Cardipulmonary exam shows a holosystolic murmur at the LLSB. Echo shows pulmonary arteries connecting to the left ventricle and the aorta rising from
the right ventricle. DX? Immediate treatment?
Transposition of Great Vessels
Prostaglandins to keep shunts open until eligible for arterial switch operation
293
Tricuspid Atresia Critical treatment?
Prostaglandins to keep PDA open, until surgery Without PFO, ASD, or VSD – incompatible with life
293
2-day-old newborn with cyanosis, difficulty breathing, and
poor feeding. Physical exam reveals a murmur c/f a VSD
and signs of central cyanosis. Echo shows absence of the
tricuspid valve and underdeveloped right ventricle, dx?
Tricuspid Atresia
294
Newborn with cyanosis and respiratory distress shortly after birth, unresponsive to supplemental oxygen. Physical exam reveals a loud S2 and a soft systolic murmur; chest X-ray shows a snowman/figure-eight-shaped heart silhouette. Dx?
Total anomalous pulmonary venous return
295
Total anomalous pulmonary venous return
ECG findings?
Right axis deviation due to RVH.
296
4-month-old w/ holosystolic murmur and palpable thrill are heard
best at LLSB, dx?
Ventral Septal Defect
297
Ventricular Septal Defect
Pathophys?
Right to left shunting across ventricles
298
Ventricular Septal Defect Associated conditions?
Trisomy 21, 18, 13, but most common congenital heart defect
299
4-year-old at well child is noted to have a widely split,
fixed S2 on physical exam and a soft systolic murmur best
heard at the left upper sternal border.
ASD
300
While under evaluation the nurse notices the infant has blue legs. The nurse assesses peripheral pulses and notes weaker femoral pulses relative to upper extremities. Most likely dx?
Coarctation of the aorta (preductal)
301
Coarctation of the aorta (preductal)
Pathophys?
Stricture narrowing of aortic lumen, associated with Turner syndrome.
302
How does postductal (Coarctation of the aorta )differ clincally?
Notching of the ribs due to collateral circulation, no selective cyanosis, hypertension in upper extremities, hypotension in lower extremities
302
Coarctation of the aorta TX
Balloon angioplasty or surgical repair. In neonates – keep ductus arteriosus open with prostaglandins
303
5-year-old at well child is found to have a soft, systolic murmur during a routine check-up. The murmur is 1/6, best heard at the left sternal border, and diminishes with sitting or standing, dx?
Flow murmur.
304
6-year-old with a soft, continuous murmur best heard above the right clavicle, which disappears when the child turns their head or is in a supine position, dx?
Venous hum, caused by turbulent flow in the jugular vein
320
very fat baby, macroglossia, visceromegaly omphalocele, hypoglycemia, renal malformation, wilms tumor..chrom 11
Beckwith-wiedermann syndrome
321
complication of chronic vesicoureteral reflux
NBS
renal parenchyma scaring =CKD: check BUN and creatinine
322
infant with cough, coryza, diarrhea, low dark urine output, systolic murmur, BUN hi, creat: hi
HUS
323
renal failure and palpable purpura following URI
Henoch-schonlein Nephritis
324
mild microcytic anemia and low RDW, normal platelet and leukocytes
thalassemia minor
325
Pt with deciminated mycobacterium, non mycobacterium or pjp suspect
HIV
326
Cardiac examination shows a pronounced S2 and a precordial heave
Pulmonary htn
327
Severe muscle pain following fever, cough, headache and sore throat
Influenza induced myositis
328
generalized lymphadenopathy, fever, weight loss, diarrhea, hepatosplenomegaly
HIV
329
dark urine, htn, peripheral and periorbital edema, RBC cast
acute renal failure following strep infection
330
episodic gross hematuria: brown urine following cold
IgA(berger disease) nephropathy
331
flulike illness followed by a diffuse red confluent maculopapular facial rash(red) on cheek appearance that has spread to his body. NSM?
Maternal serologic assays for virus-specific IgG and IgM
332
chronic parvovirus B19 infection in immunocompromised individuals with anemia. NSM?
Maternal administration of IV Ig
333
newborns < 2000 g should receive their first dose of Hepatitis B vaccine at
1 month of age
334
Diffuse intracranial calcifications (hyperechoic lesions on ultrasonography)
TOXO
335
horseness developed in childhood,fingerlike projection: DX? TX?
HPV vertical transmission
surgical debriment of vocal cord
336
HCM of macrosomic baby dt diabetes..outcome?
spontaneous regression
337
Bacterial meningitis >1 mo mcc
pneumococcal and N. meningitidis
338
NSM of bacterial meningitis: nuchal rigidity absent in
>1 mo infant
blood cultures
CT (coma , papilledema, neurological deficit
lumbar puncture
339
hyperbilirubinemia that occurs between the second and fourth days of life that is called
physiologic Jaundice
7-9 in black/caucasian kids
10-14 in asian kids
340
Fever, bloody diarrhea, follow by oligourea… fever resolved ab
Strep toxic damage to kidney
Hemolytic uremic syndrome
341
jaundice in 1st 24 hr, >5 increase in 24 hrs, or persisting after 10days of life
non-physiologic
342
nonphysiologic jaundice causes
ABO incompatibility
polycythemia
krigler Najjar
Gilbert syndrome
sepsis
biliary atresia
343
nonphysiologic jaundice complication
kernicterus (chronic bilirubin encephalopathy
344
breastfeeding jaundice in few days of life
feeding difficulty... retrain mother
345
jaundice in few weeks of life while breast feeding
Breast milk jaundice increased enterohepatic circulation of bilirubin
346
baby with hypertonia and hyperreflexia of their lower extremities they have motor dysfunction and when they crawl they really use their upper body
cerebral palsy
347
on PE, Dr. picked up the baby and noted crosing of the lower extremity
cerebral palsy
348
mc risk factor fo r cerebral palsy
prematurity
(Hypoxia)
349
1 month old infant with fever. NBS
Lumbar puncture
BBB not closed yet
350
infant with a flattened head and an anteriorly displaced ear and forehead and a mass in the sternocleidomastoid that's a description of
torticollis
treatment: increase Tommy time and stretching
351
not passing Meconium
CF: meconium ileus
352
not passing Meconium, proximal colon dilation and narrow sigmoid..diagnose with
Hirschsprung
DX: rectal suction biopsy
353
fluid crosing suture line
caput succenadeum
354
cephalohematoma
bruise does not cross suture line reabsorb
355
blood that does not cross suture line
subgaleal hemorrhage
356
ductal-dependent congenital heart defect present with
normal newborn that starts having rapid hypotension, cyanosis and hypoxia uncorrected with 100% O2
357
sweating when feeding
congenital heart defect
TOF
358
NBS with any congenital heart defect
PGE (alprostadile)
359
1 week old turns blue or has difficulty breathing when feeding, turns pink when crying
choanal atresia
360
syndrome association with choanal atresia
CHARGE( eye coloboma, heart defects, GU anomalies, ear anomalies, deafness)
361
emises with NG/GU tube is curled up on X-ray
esophageal atresia
362
TE fistula present with
newborn vomiting with gas bubble in stomach
363
syndrome associated with TE fistula
VACTERAL
(Vertebral, anal, cardiothoracic, esophageal, renal, limb)
364
duodenal atresia present with, Xray findings
billious vomiting with double buble sign
365
double buble sign associated with
Downs syn
366
baby with bilious moving +absent jejunum/ileum and ileum winding around vascular stalk
distal intestinal atresia
367
in utero vascular accident present with
distal intestinal atresia
368
annular pancreas present with
billious vomiting
369
palpable olive with non billious emesis
pyloric stenosis
TX: pyorectomy
370
billious vomiting complication..R/O
malrotation
371
down syndrome with unilater neurologic symptom after anasthesiology… cause
atlanto-axial instability
372
cutis aplasia, midline defects
Tri 13
373
tall hypogonaldal male with gynecomastia
Klinefelter
374
thin lip with intellectual disability
alcohol
375
intellectual disability with big balls
fragile X
376
muscle spasm and seizure(low Ca2+) with cleft lip
hypoparathyroid (22q11)
377
intelectual disability, seizure, acne-like papule on face
tuberous sclerosis
378
ash leaf spots, and shagreen patches
tuberous sclerosis
379
1-4 yo developmental regression, ataxia, seizure, hand-wringing
rett syndrome
380
recurrent kidney stone (hyperparatharoid ) peptic ulcer dz(pancreatitis)
Men 1
381
KAWASAKI CRASH and burn: aspirin
conjunctivitis, Rash, adenopathy (enlarge lymph), strawberry tongue, hand/feet swollen,fever
382
girl with hypertension, no menarche and hypokalemia(hypertension)
17-a-OH deffeiciency
383
hypertension with increase testosterone
11-beta OH deficiency
384
female (46xy) with breast normal external genitals
androgen insensitivity
385
female (46xy), no breast + virilization
5-a-reductase
386
female (46XX) no breast(no estrogen) +virilization (hi testosterone)
aromatase deficiency
387
new born doubles weight and sit upright
6 months
388
newborn tripled birth weight at
1yr
389
social smile and cools at
2month
390
roll over at
4month
391
primaitive reflexes disappear at
6months
392
which reflex stays till 2yo
babinski
393
pincer grasp at
1year
394
run at
18 month
395
go up and down stairs with 1 foot at a time
2 years
396
200 words (50%) speech
2yo
397
3000 words 75% speech
3yo
398
full conversation 100% speech.
4yo
399
poor speech at 2, NBS
auditory testing
400
complete toilet training by
5yo
401
2 Be DR HIP
402
4 DR HIP
403
Be DR HIP In 6month
404
1 Very MAD HIP-ster
405
Very DIM btw 4-6
406
is post vaccination seizure contraindicated
nope
407
contraindication for vaccines
Severe egg allergies (give egg preservative free flu)
Anaphylaxis
unstable neurodisorders
408
multiple fractures at varying stages of healing , bruises in a infant, look for
retinal hemorrhage
409
kids with postictal confusion in simple febrile seizure lasting >10min. NBS
Lumbar puncture
410
kid with painful red joint, hi ESR, ill-looking, can't bear weight
septic arthritis
tap the joint
410
young kid with recent flu-like illness is now limping, XR shows effusion of hip, hi ESR. Dx/NSM
transient synovitis
rest+NSAIDs
411
posterior fossa tumors in kids
pilocytic astrocytoma
medulloblastoma (worse)
412
early 2nd sex development with advanced bone age NBS
low LH low GnRH(peripheral P. puberty)
413
early 2nd sex development with advanced bone age, NSM
hi LH, Hi GnRH (central P. puberty
414
Ortolani-Bartlow maneuver looks for
hip dysplasia ( crapitus)
415
otitis media treatment
hige dose amoxicillin for 10 days
416
4-8 month: stridor worse in supine and improved in prone
laryngomalacis
spontaneous resolution
417
indication of tympaonostomy tubes
recurrent acute otitis media: >3 in 6m/>4/year
418
acute otitis external after pool: tx
swimmer's ear
topical fluoroquinolone
419
what to ask adolescent kids after their parents is out the room
HEADS
H concerns about home
E about education
A about activity
D Drugs,
S Sex/ suicide
420
croup treat
steroid and nebulizer racemic epinephrine (severe
422
Bilateral and symmetric metaphyseal erosions and periosteal inflammation of long bones(long bone abnormalities)
Pathologic fractures, Swelling, pain, and limited movement of affected extremities
NBS
Syphilis serology (VDRL or rapid plasma reagin/Dark field m
423
spontaneous hemarthrosis, intramuscular hematomas, and gastrointestinal or genitourinary bleeding
Factor 5
424
heavy, regular menses; anemia; and normal coagulation studies
vWD
425
Complications of factor 8 treatment with recombinant factor 8 infusion
Inhibitor development leading to Hemathrosis
426
Stranger anxiety /separation anxiety
6 month
8-9 month peaked
2 yr disappear
427
Emotional and social withdrawal…suspect
Abuse
428
Tourette’s disorder..NBS
1. Behavioral therapy (habit reversal training)
2. Antidopaminergic agents
Tetrabenazine (dopamine depleter)
Antipsychotics (receptor blockers)
3. Alpha-2 adrenergic receptor agonists
429
430
431
Preterm <32wk, low birth n enteric feeding abdomen distention …concern 4 n NBS
NEC: necrotizing enterocolitis
Abdominal CXR
432
fever, arthralgia, urticarial rash, and diffuse lymphadenopathy following antibiotic (-cillin n sulfur)
serum sickness–like reaction
Stop drug
433
serum sickness–like is trigger by
Anti venom, antitoxin, mono clone antibodies
(Foreign protein)
434
Presentation includes craniotabes (soft skull bones) and forearm deformities (widened wrists, radial/ulnar bowing) X-ray
Nutritional rickets in breastfed infant
435
Risk factor for scoliosis progression
female sex, age <12, premenarchal status, skeletal immaturity, and initial severe curvature
436
437
Acute fever, gen. seizures headache, temporal lobe involvement
Herpes encephalitis
438
Sudden wheezing, facial flushing and edema(<2 systems affected: lungs and skin) … dx /NSM
Hypersensitive type 1(anaphylactic reaction- IgE)
Immediate Intramuscular epinephrine
IV crystalloid & Trendelenburg positioning for hypotension
Albuterol for bronchospasm
Early intubation for upper airway obstruction
439
Fully immunized 6yo boy with h. Flu B, recurrent infection ….dx/lab
Burtons x-linked
440
Esotropia(strabismus /crossed eye) due to central vision loss is the second most common presentation of? N B S?
RB
Dilated funduscopic examination
441
irritability, diaphoresis, and poor feeding : Neonatal abstinence syndrome pathophys…. NBS
In utero exposure to maternal substance use.
Morphine
442
recurrent sinopulmonary infections, otitis media, and failure to thrive
Selective IgA def
443
technetium 99m bone scan is done to detect
Osteomyelitis
fever, malaise , and pain
444
tender, erythematous, and edematous joint, purulent synovial fluid with >50,000 WBC/mm, fever
Septic arthritis
445
15 yo vaccinations
Tdap
HPV
Meningococcal (menACWY)
446
symmetric motor and sensory polyneuropathy that begins in the distal lower extremities and may progress to the upper extremities
Charcot-Marie-Tooth disease
Schwann Cell demyelination
447
Muscle weakness typically results in hyporeflexia and progresses to muscle atrophy (AD). Mechanism
Schwann cell demyelination
448
nausea, vomiting, diarrhea, and intestinal cramping within 6 hours after the ingestion of food
contaminated by S. aureus.
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