1
Q
What specific fractures are suspicious for child abuse?
A
- Spiral fractures
- Posterior ribs (squeezing)
2
Q
What is the workup of abusive head trauma in a child?
A
- Fundoscopy for retinal hemorrhages
- CT scan for subdural hematomas
- MRI to look for white-matter changes
3
Q
What are the 5 cyanotic heart defects?
A
- Truncus arteriosus
- transposition
- tricuspid atresia
- Tetralogy of fallot
- TAPVR
4
Q
Out of the five major cyanotic congenital heart defects, which can present with cyanosis within the first few hours of life?
A
Transposition
5
Q
What are the four major drugs that can cause congenital heart defects?
A
- Phenytoin
- Li
- Thalidomide
- EtOH
6
Q
What type of shunt causes pink vs blue babies?
A
- Pink = left to right
- Blue = right to left
7
Q
What congenital heart condition is associated with Down syndrome?
A
Endocardial cushion defect and ASDs
8
Q
What congenital heart condition is associated with congenital rubella infection?
A
PDA
9
Q
What congenital heart condition is associated with Turner syndrome?
A
- Coarctation of the aorta
- bicuspid aortic valve
10
Q
What heart condition is associated with Kawasaki’s disease?
A
Coronary artery aneurysm
11
Q
What congenital heart condition is associated with neonatal lupus?
A
Congenital heart block
12
Q
What congenital heart condition is associated with William’s syndrome?
A
Supravalvular aortic stenosis
13
Q
What is william’s syndrome?
A
- Developmental disorder characterized by mild-moderate MR, “elvin” features, and outgoing personality.
- Hypercalcemia common
14
Q
What congenital heart condition is associated with DiGeorge syndrome?
A
Conotruncal abnormalities
15
Q
What congenital heart condition is associated with maternal use of Li?
A
Ebstein’s abnormality (atrialization of the right ventricle)
16
Q
What congenital heart condition is associated with neonatal thyrotoxicosis?
A
HF
17
Q
What congenital heart condition is associated with maternal DM?
A
Asymmetric septal hypertrophy and transposition of the great vessels
18
Q
What is the characteristic heart sound produced by an ASD?
A
Fixed, widely split S2
19
Q
What are the 3 D’s of non cyanotic heart defects?
A
VSD
ASDs
PDA
20
Q
What is the most common type of congenital heart disease?
A
VSD
21
Q
Where in the heart do most VSDs occur?
A
Membranous portion
22
Q
What is Eisenmenger syndrome?
A
When a right to left shunt reverses, and causes pHTN
23
Q
What is the treatment for most ASDs/VSDs?
A
Self limited
24
Q
True or false: abx are recommended prior to treating most ASDs/VSDs
A
False
25
When is surgical management indicated in the repair of ASDs vs VSDs?
-fail medical management
-less than 1 y.o. with pHTN
-Older children with defects that do not close over time
-
26
What is the treatment for HF in children?
ACEIs
| Diuretics
27
What three major syndromes are associated with ASDs?
- Holt-oram syndrome
- Fetal EtOH syndrome
- Trisomy 21
28
What is Holt-oram syndrome?
AD disorder that affect bones in the arms and hands, (absent radii) and may also cause heart problems.
29
What are the five major syndromes associated with VSD?
- Apert syndrome
- Fetal alcohol
- TORCHES infc
- Cri du chat
- Trisomies (13, 18, 21)
30
What is Apert syndrome?
Form of acrocephalosyndactyly--deformations of skull, face, hands, and feet. Branchial arch problems.
31
What are the s/sx of large ASDs and VSDs?
- ASDs = fatigability
| - VSDs = Recurrent respiratory infx, CHF, dyspnea
32
What are the CXR findings of ASDs?
- Cardiomegaly
| - Increased pulmonary vasculature
33
RVH and LVH are associated with ASD vs VSD?
- RVH = ASDs
| - LVH = VSDs
34
What are the four major causes of shock in a neonate?
1. Sepsis
2. IEM
3. Ductal-dependent heart disease
4. Congenital adrenal hyperplasia
35
What hemodynamic findings on PE can be seen with PDA?
- Wide pulse pressure
| - Bounding peripheral pulses
36
What is the treatment for a PDA?
indomethacin will close. Surgery if does not by age ~7 months.
37
how does coarctation of the aorta usually present?
- Asymptomatic HTN
- Weak femoral pulses
- Higher sBP in UE than LE
38
What is the gold standard for diagnosing coarctation of the aorta?
Echo
39
What is the "3" sign that can be seen on CXR?
Coarctation of the aorta
40
What is the treatment for a coarctation of the aorta?
- If PDA needed, PGE1
| - Surgical correction with balloon
41
What are the components of the CATCH-22 mnemonic for DiGeorge syndrome?
- Cardiac abnormalities
- Abnormal Facies
- Thymic aplasia
- Cleft palate
- Hypocalcemia
- 22q deletion
42
What is the most common cyanotic congenital heart lesion in the newborn?
Transposition
43
What makes transposition of the great vessels compatible with early life?
Presence of a VSD or ASD
44
How does transposition of the great vessels usually present?
- Cyanosis in the first few hours of life
| - Murmur of VSD or ASD
45
"egg shaped silhouette" on CXR is diagnostic for what?
transposition of the great vessels
46
What are the components of the tetralogy of Fallot?
- Overriding aorta
- VSD
- RVH
- Pulmonic stenosis
47
What determines the degree of cyanosis with tetralogy of fallot?
Degree of pulmonic stenosis
48
What is the mechanism through which squatting relieves symptoms of tetralogy of fallot?
Increases systemic vascular resistance, thereby increasing blood flow through the stenotic pulmonary artery
49
What is the murmur associated with tetralogy of fallot?
Systolic ejection murmur at left upper sternal border
50
Boot shaped heart on CXR is classic for what heart condition?
Tetralogy of fallot
51
What are the signs of autism?
- no babbling by 12 months
- No two word phrases by 24 months
- Impaired social interaction
- Restricted interests
- insistence on routine
52
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age: 2 months
- Gross motor = lifts head/chest when prone
- Fine motor = Tracks past midline
- Language = Alert to sounds and coos
- Social/cognitive = Social smile, recognizes parents
53
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age: 5 months
- Gross motor = Rolls from front to back
- Fine motor = grasps rattle
- Language = Laughs and squeals, orients to voice
- Social/cognitive = Enjoys looking around, laughs
54
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age: 6 months
- Gross motor = sits unassisted
- Fine motor = Transfers objects, raking grasp
- Language = babbles
- Social/cognitive = Stranger anxiety
55
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age: 9-10 months
- Gross motor = Crawls, pulls to stand
- Fine motor = 3 finger pincer grasp
- Language = mama/dada
- Social/cognitive = waves bye-bye
56
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age:12 months
- Gross motor = walks alone
- Fine motor = 2 finger grasp
- Language = 1-3 words
- Social/cognitive = separation anxiety, follows 1-step commands
57
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age: 2 years
- Gross motor = Walks up/down steps
- Fine motor = builds 6 cube tower
- Language = 2 word phrases
- Social/cognitive = follows 2 step commands
58
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age: 3 years
- Gross motor = rides tricycle
- Fine motor = copies a circle
- Language = 3 words
- Social/cognitive = Brushes teeth, washes hands
59
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age:4 years
- Gross motor = hops
- Fine motor = Copies a cross, uses utensils
- Language = knows colors and some numbers
- Social/cognitive = Exhibits cooperative play
60
What are the gross motor, fine motor, language, and social/cognitive milestones reached by age: 5 years
- Gross motor = Skips, walks backwards
- Fine motor = Copies a triangle, ties shoelaces
- Language = 5 word sentences
- Social/cognitive =
61
At what age should a child be able to: lift head/chest when prone?
2 months
62
At what age should a child be able to: coo?
2 months
63
At what age should a child be able to: exhibit a social smile
2 months
64
At what age should a child be able to: roll from front to back
4-5 months
65
At what age should a child be able to: sit unassisted
6 months
66
At what age should a child be able to: babble
6 months
67
At what age should a child be able to: laugh and squeal
4-5 months
68
At what age should a child be able to: have stranger anxiety
6 months
69
At what age should a child be able to:use a 3 finger grasp
9-10 months
70
At what age should a child be able to: use a 2 finger grasp
12 months
71
At what age should a child be able to: walk alone
12 months
72
At what age should a child be able to: walk up/down steps
2 years
73
At what age should a child be able to:build a tower of 6 cubes
2 years
74
At what age should a child be able to: use 2 word phrases
2 years
75
At what age should a child be able to: use 3 word phrases
3 years
76
At what age should a child be able to: follow 2 step commands
2 years
77
At what age should a child be able to: copy a circle
3 years
78
At what age should a child be able to:ride a tricycle
3 years
79
At what age should a child be able to: brush teeth with help
3 years
80
At what age should a child be able to: hop
4 years
81
At what age should a child be able to: copy a cross
4 years
82
At what age should a child be able to: know colors and some numbers
4 years
83
At what age should a child be able to: exhibit cooperative play
4 years
84
At what age should a child be able to: copy a triangle
5 years
85
At what age should a child be able to: tie showlaces
5 years
86
At what age should a child be able to: use 5 word sentences
5 years
87
At what age should a child be able to: exhibit domestic role playing
5 years
88
At what age should a child be able to: be 50% intelligible? 75%? 100%?
50% = 2 years
75% = 3 years
100% 4 years
89
Until what age is head circumference measured?
2 years
90
Newborns can lose up to what % of their body weight and still be normal? When should they regain their birth weight by?
- 10%
| - by 2 weeks
91
When can infants be expected to double their birth weight? Triple? Quadruple?
- Double by 6 months
- Triple by 1 year
- Quadruple by 2 years
92
What is the definition of FTT?
Weight less than the 5th percentile or crossing two major percentile lines on a growth curve
93
What is "organic" vs "nonorganic" FTT?
- Organic = Due to underlying medical condition
| - Nonorganic = Due to psychosocial factors
94
What is the order of female pubertal development?
- Thelarche
- Adrenarche
- Pubarche
- Menarche
95
What is the order of male pubertal development?
- Gonadarche
- Pubarche
- Adrenarche
- Growth spurt
96
How is precocious puberty defined for boys and girls?
```
Girls = 8 years or soon
Boys = 9 years or sooner
```
97
How is delayed puberty defined for boys and girls?
```
Girls = 13 years
Boys = 14 years
```
98
What is the average age of puberty for girls and boys respectively?
```
Girls = 10.5 year
Boys = 11.5 years
```
99
What is constitutional growth delay?
The growth curve lags behind others of the same age but remains consistent.
100
True or false: children with constitutional growth delay typically reach full height
True
101
What are the names of the three major trisomies
```
21 Downs (drink)
18 Edwards (elections)
13 Patau (puberty)
```
102
What are the characteristic eye findings with Down syndrome?
Upslanted palpebral fissures
103
What GI diseases are common amongst Down syndrome pts?
- Hirschsprung's disease
| - Duodenal atresia
104
Why thyroid issue are pts with Down syndrome predisposed to?
hypothyroidism
105
Rocker bottom feet is characteristic of which trisomy?
18
106
Micrognathia is characteristic of which trisomy?
18
107
Clenched hands is characteristic of which trisomy?
18
108
Microcephaly is characteristic of which trisomy?
13
109
Microphthalmia is characteristic of which trisomy?
13
110
holoprosencephaly is characteristic of which trisomy?
13
111
Polydactyly is characteristic of which trisomy?
13
112
What is the genotype of Klinefelter syndrome? S/sx?
- XXY
- Hypogonadism
- Testicular atrophy
- Gynecomastia
- Female hair distribution
113
What is the treatment for Klinefelter's syndrome?
Testosterone
114
What is the genotype of Turner's syndrome? S/sx?
- XO
- Primary amenorrhea
- Webbed neck
- Coarctation of the aorta
- Bicuspid aortic valve
- LAD of the hands and feet in neonatal period
115
What are the s/sx of Double Y males?
Look normal, but some are tall with worse acne
116
What are the physical features of pts with PKU?
- fair hair and skin
- Eczema
- Blonde hair
- Blue eyes
- *Musty urine odor*
117
what are the physical features of fragile X syndrome?
Large jaw, testes, and ears
118
What is the defect and inheritance pattern of Fabry's disease? S/sx? Increased risks?
- XLR loss of alpha-galactosidase
- Severe neuropathic limb pain
- Angiokeratomas and telangiectasias
- Renal failure and an increased risk of stroke
119
What is the defect and inheritance pattern of Krabbe disease? S/sx? Increased risks?
- AR loss of galactosylceramide and galactoside
- Progressive CNS degeneration within the first 3 years of life
- Optic atrophy and spasticity
120
What is the defect and inheritance pattern of Gaucher's disease? S/sx? Increased risks?
- AR Deficiency of Glucocerebroside
- Anemia and thrombocytopenia
- Adult form has normal lifespan
121
Macrophages with crinkled paper = ?
Gaucher's disease
122
What is the defect and inheritance pattern of Niemann-pick disease? S/sx? Increased risks?
- AR loss of Sphingomyelinase (No man PCIKs his nose with his sphinger)
- Cherry red spot and HSM
- Die by age 3
123
Cherry red spot on macula + HSM = ?
Niemann-pick's disease
124
What is the defect and inheritance pattern of tay-sachs disease? S/sx? Increased risks?
- AR loss of heXosaminidase for tay-saX
- Normal until 3-6 months, then weakness and developmental regression
- Cherry red macula with NO HSM
125
Cherry red macula with NO HSM = ?
Tay-saX loss of heXosaminidase
126
What is the defect and inheritance pattern of metachromatic leukodystrophy? S/sx? Increased risks?
- AR loss of Arylsulfatase A
| - Demyelination leads to progressive ataxia, and dementia
127
What is the defect and inheritance pattern of Hurler disease? S/sx? Increased risks?
- AR loss of alpha iduronidase
| - Corneal clouding, MR, and gargoylism
128
What is the defect and inheritance pattern of hunter's disease? S/sx? Increased risks?
- XLR loss of iduronate sulfatase
- NO corneal clouding, and mild MR
"Hunters need to see (no corneal clouding) to see the X (XLR)"
129
What is the inheritance pattern and dysfunction of CF? In which ethnicity is it commonly seen in?
- AR loss of CFTR on chromosome 7
| - Whites
130
What sign of CF presents within 24 hours of birth?
Meconium ileus
131
What signs of CF are typically present before 1 year of life?
Recurrent sinopulmonary infections
132
What signs of CF are typically present *after* 1 year?
- Pancreatic insufficiency
| - nasal polyposis
133
What causes male infertility with CF?
Agenesis of the vas deferens
134
Unexplained hyponatremia in a white person is suspicious for what disease?
CF
135
How do you typically diagnose CF (if not caught on newborn screen)?
Sweat chloride test
136
What is the treatment for CF pulmonary issues?
- Physical therapy
- Bronchodilators
- Abx coverage for pseudomonas
137
What is the treatment for the malabsorption issues 2/2 CF?
Supplemental pancreatic enzymes and Vit ADEK
138
What is the recommended diet for pts with CF?
high protein, high calorie
139
what is the most common cause of a bowel obstruction in children between 6 months and 3 years?
Intussusception
140
How can Henoch-schonlein purpura lead to intussusception?
causes mucosal hematomas
141
What is the classic triad of symptoms for intussusception?
- Sever abdominal pain
- Vomiting
- Bloody mucus (currant jelly) stools
142
What are the classic findings on physical exam of intussusception?
Sausage shaped RUQ mass
| Empty RLQ
143
target sign on abdominal x-ray is characteristic of what disease?
-Intussusception
144
When will and US and abdominal x-ray show signs of intussusception?
- US will show during pain attack
| - X-ray will show when progressed
145
What is the treatment for intussusception?
- Correct electrolyte abnormalities
- NG tube decompression
- Air insufflation enema (diagnostic and curative)
146
When is surgery indicated for intussusception?
If pt develop peritoneal signs
147
In whom is pyloric stenosis more common in?
First born boys
148
maternal ingestion of what Abx is associated with pyloric stenosis?
Erythromycin
149
What is the classic presentation of pyloric stenosis?
Nonbilious emesis around 3-5 weeks of age, with progression to projectile emesis
150
What is the classic PE finding for pyloric stenosis?
olive shaped mass and visible gastric peristaltic waves
151
what is the imaging modality of choice for pyloric stenosis?
US
152
What will lab findings be with pyloric stenosis?
-Hypochloremic, hypokalemic, metabolic alkalosis (emesis results in loss of HCl and RAAS activation)
153
What is the classic Ba enema findings with pyloric stenosis?
String sign
154
What is the treatment for pyloric stenosis?
- NPO
- IVFs
- Pyloromyotomy
155
What is the pathogenesis of a Meckel diverticulum?
failure of the omphalomesenteric duct to obliterate, resulting in the formation of a true diverticulum
156
What sort of tissue is contained with a Meckel diverticulum?
heterotopic gastric tissue--can cause intestinal ulceration and painless hematochezia
157
Are Meckel diverticula true or false diverticula?
True--have all three layers
158
Meckel's diverticula are most frequently symptomatic in children under what age?
2 years
159
What is the usual presentation of a meckel's diverticulum?
Painless rectal bleeding
160
What are the complications from meckel's diverticulum? (3)
- Intestinal perforation/obstruction
- diverticulitis
- intussusception
161
How is a meckel's diverticulum diagnosed?
Meckel scintigraphy scan (Tc99 detects ectopic gastric tissue)
162
What is the treatment for a meckel's diverticulum?
Surgical excision of diverticulum with adjacent ileal tissue
163
What is the pathophysiology of Hirschsprung's disease?
lack of ganglion cells in the distal colon, leading to decreased motility due to unopposed smooth muscle tone in the absence of enteric relaxing reflexes
164
What genetic disease is Hirschsprung's disease associated with?
Downs
165
failure to pass meconium 48 hours after birth suggests what disease process?
Hirschsprung's disease
166
What are the classic PE findings of Hirschsprung's disease?
- Explosive stool after DRE
- Lack of stool in rectum
- Abnormal sphincter tone
167
How is Hirschsprung's disease diagnosed? What does this show?
Ba enema will show a narrowed distal colon with proximal dilation.
168
What is the definitive, confirmatory test for Hirschsprung's disease diagnosis?
Rectal bx shows absence of myenteric plexus
169
What is the treatment for Hirschsprung's disease?
Two-stage surgical repair, where a colostomy is used initially, then followed several weeks later by a definitive "pull through" procedure
170
What is the pathogenesis of malrotation with volvulus?
leads to cecum in the right hypochondrium, and the formation of fibrous "ladd bands" which predispose bowel obstruction and constriction of blood flow
171
How/when does malrotation with volvulus usually present?
First month of life with bilious emesis, crampy abdominal pain, and bloody/mucus stools
172
What are the classic abdominal x-ray findings of malrotation with volvulus?
Bird-beak appearance and air-fluid levels
173
What is the diagnostic test of choice for malrotation?
Upper GI series. This will show an abnormal location of the ligament of Treitz
174
What is the treatment for a malrotation with volvulus?
NG tube decompression, IVFs, emergent surgical repair
175
What is necrotizing enterocolitis?
Bowel undergoes necrosis (usually the ileum/proximal colon).
176
What is the most common GI emergency in neonates?
Necrotizing enterocolitis
177
In whom is necrotizing enterocolitis most commonly seen in?
Premature infants
178
What are the risk factors for necrotizing enterocolitis?
- Low birth weight
- Hypotension
- Enteral feedings
179
What are the usual s/sx of necrotizing enterocolitis?
In the first few days of life, there is feeding intolerance, delayed gastric emptying, abdominal distention, and hematochezia
180
What are the complications from untreated necrotizing enterocolitis'?
- Intestinal perforation
- Peritonitis
- Shock
181
What might lab findings show with necrotizing enterocolitis?
- Hyponatremia
- Metabolic acidosis
- Leukopenia/leukocytosis with L shift
- DIC
182
Plain radiographs of necrotizing enterocolitis classically show what?
Pneumatosis intestinalis (intramural air bubbles representing gas produced by bacteria within the bowel wall)
183
What is the treatment for necrotizing enterocolitis?
- NPO
- orogastric tube for gastric decompression
- Correct metabolic disturbances
184
What are the indications fur surgery for necrotising enterocolitis?
- Perforation
| - Worsening radiographic signs
185
What is the typical surgical treatment for necrotizing enterocolitis?
Ileostomy with mucous fistula
186
What are the complications that result from necrotizing enterocolitis?
Strictures
| Short bowel syndrome
187
What is the role of B cells?
-make immunoglobulins, and are responsible for immunity against extracellular bacteria
188
What is the role of T cells?
Responsible for immunity against intracellular bacteria, viruses, and fungi
189
Pneumatosis intestinalis on plain films is pathognomonic for what disease in neonates?
NEC
190
What is the defect involved with bruton's agammaglobulinemia? Pathogenesis?
- XLR B cell deficiency of a tyrosine kinase
- leads to lack of Igs
- Severe infx begin at 6 months of age, when maternal Igs are gone
191
How do you diagnose bruton's agammaglobulinemia?
Quantitative Ig levels. If low, confirm with
192
What PE findings are classic for bruton's agammaglobulinemia?
Lack of tonsils and other lymphoid tissue
193
What is the treatment for bruton's agammaglobulinemia?
Prophylactic abx and IVIG
194
What infections are pts with bruton's agammaglobulinemia at risk of developing?
encapsulated organisms (pseudomonas, S pneumoniae, haemophilus)
195
What are the SHINe SKIs organisms?
```
Strep pneumoniae
HiB
N. meningitidis
E.coli
Salmonella
Klebsiella
GBS
```
196
What is CVID?
Combined B and T cell defect, causing low levels of all Igs and plasma cells, but normal amount of B cells.
197
When does CVID usually present?
15-35 years
198
What are the infections that are common to CVID?
- Increased pyogenic infx
| - increased risk of lymphoma and autoimmune diseases
199
How do you diagnose CIVD?
Quantitative levels of Igs.
200
What is the treatment for CVID?
IVIG
201
True or false: there is a decreased level of B cells with CVID
False- decrease in plasma cells, and hence decrease in Ig, but normal B cell numbers
202
How do you diagnose IgA deficiency?
Quantitative levels of IgA
203
What is the treatment for IgA deficiency?
- Usually requires no treatment
| - IVIG if necessary, but must be careful if there are IgA in it
204
What electrolyte disturbance is common to DiGeorge syndrome?
Hypocalcemia
205
What might CXR reveal with DiGeorge syndrome?
Absent thymic shadow
206
What immune cell type is mainly deficient in DiGeorge syndrome?
T cells
207
What are the immunologic symptoms of DiGeorge syndrome?
Increased Viral, fungal, and PCP pneumonia
208
How do you diagnose the immunodeficiency part of DiGeorge syndrome?
Absolute T cell counts
| Delayed skin rxn
209
What is the treatment for the immunodeficiency part of DiGeorge syndrome?
bone marrow transplant and IVIG for antibody deficiency
210
What is the inheritance pattern and defect in ataxia-telangiectasia? S/sx?
- AR mutation in gene responsible for dsDNA break repair
| - Cerebellar ataxia with oculocutaneous telangiectasias
211
What is the treatment for ataxia-telangiectasia?
No treatment--may require IVIG if severely infected
212
Which malignancies are pts with Ataxia-Telangiectasias at increased risk for? (3)
- Non-hodgkin's lymphoma
- Leukemia
- Gastric carcinoma
213
What is the inheritance pattern and pathophysiology of SCID?
-XLR loss of B and T cells due to a defect in stem cell maturation and decreased *adenosine deaminase*
214
What is the treatment for SCID?
- Bone marrow transplant
| - PCP pneumonia prophylaxis
215
What is the inheritance pattern, defect, and pathophysiology of Wiskott-Aldrich syndrome?
- XLR
| - Decreased IgM and thrombocytopenia (Increased IgE/IgA)
216
What are the components of the WIPE mnemonic for Wiskott-Aldrich syndrome?
- Wiskott-Aldrich
- Infections
- Purpura (thrombocytopenia)
- Eczema
217
What infections are pts with Wiskott-Aldrich syndrome at increased risk of developing?
-Atopic disorders
-Encapsulated bacterial (from lack of IgM
-
218
What is the typical presentation and prognosis for Wiskott-Aldrich syndrome?
- Presents at birth with bleeding, eczema, and recurrent OM.
| - Pts rarely survive to adulthood
219
In general, when do hereditary B cell deficiencies present? How? Treatment?
- After 6 months
- Infx with encapsulated organisms
- IVIG
220
In general, when do hereditary T cell deficiencies present? How?
- 1-3 months
| - Opportunistic bacterial, viral, and fungal infx
221
What are the general presenting symptoms of a phagocyte deficiency?
Mucous membrane infections, abscesses and poor wound healing
222
What sort of infections are pts with phagocyte deficiencies at increased risk for?
Catalase + organisms
- Fungi
- Gram negative enteric organisms
223
What is the common presentations of complement deficiencies? (2)
- Congenital asplenia or splenic dysfunction
| - Recurrent bacterial infections with encapsulated organisms
224
What is the inheritance pattern, defect, and s/sx of: chronic granulomatous disease
- XLR (or AD), deficiency in superoxide production by PMNs and macrophages
- *Granulomas*, Anemia, LAD, hypergammaglobulinemia common
225
What infections are pts with chronic granulomatous disease at increased risk for?
-Catalase + organisms
226
What is the diagnostic modality of choice, and treatment for chronic granulomatous disease?
- Decreased absolute PMN count
- DHR test or Nitroblue tetrazolium test
- daily TMP=SMX
227
What is the inheritance pattern, defect, and s/sx of: Leukocyte adhesion deficiency?
- Defect in chemotaxis of leukocytes, and decreased phagocytic activity
- No pus with minimal inflammation around wounds
- Omphalitis in the newborn, with delayed separation of the umbilical cord
228
Delayed separation of the umbilical cord is classic for what immunodeficiency?
Leukocyte adhesion deficiency
229
No pus and minimal inflammation around wounds is suspicious for what disease?
Leukocyte adherence deficiency
230
What is the treatment for leukocyte adherence deficiency?
Bone marrow transplant
231
What is the inheritance pattern, defect, and s/sx of: Chediak-Higashi syndrome?
- AR that leads to a defect in PMN chemotaxis/microtubule polymerization
- Partial oculocutaneous albinism, peripheral neuropathy, and neutropenias
232
How do you diagnose Chediak-Higashi syndrome?
Giant granules in PMNs
| -BMT is treatment
233
What is the classic triad of symptoms for Chediak-Higashi syndrome?
- Partial oculocutaneous albinism
- Peripheral neuropathy
- Neutropenia
234
What is the inheritance pattern, defect, and s/sx of: Job syndrome?
- Defect in PMN chemotaxis
| - Recurrent S. aureus infx
235
What are the components of the FATED mnemonic for Job syndrome?
- coarse Facies
- Abscesses
- retained primary Teeth
- hyper IgE (eosinophilia)
- Dermatologic defects
236
What is the treatment for job syndrome?
Treat with penicillinase-resistant antibiotics and IVIG.
237
What is the acute, subacute, and chronic phase of Kawasaki's disease?
```
ACute = 1-2 weeks,
Subacute= 2-8 weeks. Thrombocytopenia, leukocytosis
Chronic = 8+ weeks, all clinical symptoms have gone, but untreated still at risk for MI
```
238
What will acute Kawasaki's disease present lab wise?
Normochromic anemia, leukocytosis with a L shift. High ESR and CRP
239
What will subacute Kawasaki's disease present lab wise?
Thrombocytosis
| ESR and CRP gradually decrease during this phase
240
What test should be performed at diagnosis of Kawasaki's disease to follow?
ECho
241
What is the treatment for Kawasaki's disease?
IVIG and ASA
242
What is the inheritance pattern and features of C1 esterase deficiency?
-AD loss of C1 esterase, causing recurrent episodes of angioedema lasting 2-72 hours
243
What is the diagnostic test and treatment for C1 esterase deficiency?
- Total hemolytic complement establishes diagnosis
| - Purified C1 esterase and FFP can be used prior to surgery
244
Terminal complement deficiency presents how? Why?
- Recurrent Neisseria infection, meningococcal or gonococcal
| - Inability to form MAC complex
245
What is the treatment for terminal complement deficiency?
Meningococcal vaccine and appropriate abx
246
How many days of fever are needed to diagnose Kawasaki's disease?
5 days
247
What are the components of the CRASH and BURN mnemonic for Kawasaki's disease?
```
Conjunctivitis
Rash
Adenopathy (unilateral)
Strawberry tongue
Hand and feet desquamation
```
BURN = fever of 104+ for 5 + days
248
Kawasaki disease and scarlet fever may both present with “strawberry tongue,” rash, desquamation of the hands and feet, and erythema of the mucous membranes. How can you differentiate them?
children with scarlet fever have normal lips and no conjunctivitis.
249
When are corticosteroids used to treat Kawasaki's disease?
If IVIG does not work
250
What is JRA? (symptoms, ages, duration)
Autoimmune disorder manifesting as morning stiffness and gradual loss of motion that is present for at least 6 weeks in a patient less than 16 years of age?
251
What is the treatment for JRA (juvenile idiopathic arthritis)?
NSAIDs
| Corticosteroids for carditis
252
What is the pauciarticular subtype of JRA?
Involves 4 or fewer joints, with no systemic symptoms
| -Uveitis is common
253
What is the RF and ANA status of pauciarticular subtype of JRA?
ANA +
| RF-
254
What is the RF and ANA status of polyarthritis subtype of JRA?
RF- (+if severe)
| ANA+
255
What is the RF and ANA status of systemic subtype of JRA?
ANA-
| RF-
256
What is the most common subtype of JRA?
Pauciarticular
257
What is the polyarthritis form of JRA?
5+ joint involvement, with rheumatoid nodules if RF +
258
What is the systemic onset (still disease) subtype of JRA?
Recurrent high fevers
HSM
*Salmon colored macular rash*
259
When does joint inflammation occur with the systemic onset of JRA (Still disease)?
May not occur for months to years after systemic symptoms appear
260
What are the three most common bacterial pathogens associated with AOM?
- Strep pneumoniae
- Nontypable H influenzae
- Moraxella catarrhalis
261
What is the treatment for acute OM?
High dose amoxicillin or augmentin 80 mg/kg/day x 10 days
262
What is the most common infectious agent that causes bronchiolitis?
RSV
263
Young infants in particular are at risk of what complication of an RSV bronchiolitis?
Apnea
264
What is the definition of acute bronchiolitis?
Acute inflammation of the small airways of the lower respiratory tract that primarily affects infants and children less than 2 years
265
What is the typical presentation of bronchiolitis?
Days 1-3 with low grade fever, rhinorrhea, cough. Small infants may have apnea
Days 4-6 Respiratory distress, tachypnea, hypoxia
266
What are the PE findings of a kiddo with bronchiolitis?
Tachypnea
Hypoxia
Crackles or coarse breath sounds ("washing machine sounds"), and possible wheezing
267
What is the earliest and most sensitive symptom of bronchiolitis?
tachypnea
268
How is bronchiolitis typically diagnosed?
Clinically, but if severe, CXR to r/o pneumonia
269
What may a CXR show with bronchiolitis?
Flattened diaphragm, interstitial infiltrates, atelectasis
270
What is the role of a nasopharyngeal swab for RSV in diagnosing bronchiolitis?
Highly sensitive and specific, but does not change management
271
What is the treatment of bronchiolitis?
Supportive:
- Hydration
- suction
- O2
- Albuterol
272
What is the role of corticosteroids in the treatment of bronchiolitis?
NOT indicated
273
When is ribavirin indicated for the treatment of bronchiolitis?
In high risk infants
274
What is the RSV prophylaxis?
Injectable monoclonal antibodies (palivizumab)
275
What is the technical name for croup?
Laryngotracheobronchitis
276
What is the causative agent of croup?
Parainfluenza type 1, 2, and 3, as well as RSV
277
What is the typical presentation of Croup?
Prodromal URI symptoms followed by a lower grade fever, dyspnea, and *inspiratory stridor* and *barking cough*
278
What time of day is croup typically at its worst?
Night
279
How is croup diagnosed?
Clinically
280
What might a neck x-ray show with croup?
Steeple sign
281
What is the treatment for mild, moderate, and severe cases of croup?
- Mild = outpatient cool mist and fluids
- Moderate = O2, IM corticosteroids, nebulized epi
- Severe = (respiratory distress) = hospitalize and give nebulized epi, and consider intubation
282
What is the classic common cause of epiglottitis? Now?
- H. influenzae (but now immunized)
| - Strep species and nontypable H flu
283
What is the typical presentation of epiglottis?
- ACute onset fever
- Dysphagia/drooling
- Tripod position (neck hyperextension and chin protruding, leaning forward)
284
How is epiglottitis diagnosed? What might a neck x-ray show?
Clinically
| "thumbprint sign"
285
When is the only appropriate time to use a swab to examine the pharynx of a patient with epiglottitis?
If anesthesiologist or otolaryngologist is present
286
What is the treatment for epiglottitis?
- Secure the airway!!
| - IV abx (Ceftriaxone or cefuroxime)
287
What are the three most common causes of meningitis?
- Strep pneumoniae
- Neisseria meningitidis
- E. coli
288
What is Kernig's sign?
reluctance of knee extension when the hip is flexed
289
What is brudzinski's sign?
Hips are flexed in response to forced flexion of the neck
290
What are the abx of choice for neonatal meningitis?
- ampicillin
- Cefotaxime
- Gentamicin
291
What are the abx of choice for treating kids with meningitis?
Ceftriaxone and vanco
292
Which improves with administration of nebulized, racemic epi: croup, epiglottitis, or tracheitis?
Croup
293
True or false: neonates and young children rarely have meningeal signs on exam
True
294
Why should neonates not be given ceftriaxone?
Increased risk of biliary sludging and subsequent kernicterus
295
What is the difference between retropharyngeal abscesses vs peritonsillar abscesses in terms of: age group affect?
- Retropharyngeal abscess = 6 months - 6 years
| - Peritonsillar abscess = 10+ years
296
What is the difference between retropharyngeal abscesses vs peritonsillar abscesses in terms of: presentation?
- Retropharyngeal abscess = Acute onset of fever, hot potato voice, trismus, drooling
- Peritonsillar abscess = hot potato voice, uvula displace to opposite side
297
What is the difference between retropharyngeal abscesses vs peritonsillar abscesses in terms of: pathogen
- Retropharyngeal abscess = Group A strep
| - Peritonsillar abscess = Group A strep
298
What is the difference between retropharyngeal abscesses vs peritonsillar abscesses in terms of: preferred position
- Retropharyngeal abscess = neck extended (flexing worsens symptoms)
- Peritonsillar abscess = none
299
What is the difference between retropharyngeal abscesses vs peritonsillar abscesses in terms of: diagnostic criteria
- Retropharyngeal abscess = Lateral neck x-ray
| - Peritonsillar abscess = Clinically
300
What is the difference between retropharyngeal abscesses vs peritonsillar abscesses in terms of: treatment
- Retropharyngeal abscess = ASpiration or I+D
| - Peritonsillar abscess = I+D
301
What will be seen in the oropharynx of a kid with a retropharyngeal abscess?
Usually unilateral; a mass may be seen in the posterior pharyngeal wall on visual inspection.
302
What will a lateral neck x-ray show with a retropharyngeal abscess?
the soft tissue plane should be ≤ 50% of the width of the corresponding vertebral body.
303
What is the most common cause of neonatal conjunctivitis?
C trachomatis and HSV
304
What is the gold standard for diagnosing neonatal conjunctivitis?
- Bacterial cultures
| - HSV PCR
305
What is the treatment for neonatal conjunctivitis?
- Empiric abx until known
| - Topical erythromycin ointment and oral erythromycin
306
Why are topical abx alone for neonatal conjunctivitis insufficient?
Systemic infection usually present
307
Why is empiric abx coverage for neonatal conjunctivitis crucial?
If caused by gonorrhea, corneal ulceration can occur, with resultant scarring within 24-48 hours
308
What is the treatment for HSV conjunctivitis?
14-21 days of systemic acyclovir + topical agent (e.g.vidarabine)
309
What is the treatment for HSV conjunctivitis?
14-21 days of systemic acyclovir + topical agent (e.g. vidarabine)
310
What are the s/sx of neonatal chlamydia conjunctivitis?
1-2 weeks after birth, eyelid swelling and relatively scant watery d/c
311
What are the s/sx of neonatal Gonorrhoeae conjunctivitis?
Appear within 1 week of birth
| -Bilateral purulent with edema
312
What are the s/sx of neonatal HSV conjunctivitis?
- Symptoms appear within2 weeks
- Conjunctival injection + watery/serosanguinous d/c
- Vesicle around the eyes
313
Who is the primary reservoir for pertussis?
Adults
314
What are the three stages of pertussis infx?
1. Catarrhal (mild URI s/sx for 1-2 weeks)
2. Paroxysmal (cough with stridor. 2-3 months
3. Convalescent (symptoms wane)
315
What is the classic presentation of pertussis (age +3 symptoms)?
6 month (or less) old with coughing, posttussive emesis, and apnea
316
What lab finding is peculiar regarding pertussis infection?
Leukocytosis with lymphocytic predominance
317
What is the gold standard for diagnosing pertussis?
Nasopharyngeal swab
318
What is the treatment for pertussis?
- Hospitalize if less than 6 months
| - azithromycin x10 days
319
What is the abx of choice for pertussis?
Azithromycin
320
What is the PEP for pertussis?
Z-pack x5 days
321
What viruses causes erythema infectiosum?
Parvovirus B19
322
What viruses causes measles?
Paramyxovirus
323
What are the characteristics of the prodromal period, and rash for erythema infectiosum?
- No prodrome
| - Pruritic, maculopapular erythematous rash that starts on the arms, and spreads to the trunk and legs
324
What classically makes the rash of erythema infectiosum worse?
Fever and sun exposure
325
What are the two major complications of erythema infectiosum?
- Arthropathy (if adult)
| - Aplasic crises in sickle cell or hereditary sphereocytosis)
326
What is the prodrome of measles?
Low grade fever with a cough, coryza, and conjunctivitis
327
What are the characteristics of the rash with measles?
Erythematous maculopapular rash the spreads from head, to toes
328
What is the rare but devastating complication of measles?
subacute sclerosing panencephalitis
329
What is the prodrome of rubella?
Asymptomatic or tender, generalized LAD (particularly the posterior auricular)
330
What are the characteristics of the rash with rubella?
Erythematous maculopapular rash the spreads from head to toe.
331
How can you differentiate rubella and measles on clinical symptoms?
Measles appear sicker and have a higher fever (rubella has no to low grade fever)
332
What are the complications from rubella infection (not congenital)?
Encephalitis
| Thrombocytopenia
333
What are the congenital effects of rubella? (4)
PDA
Deafness
MR
Cataracts
334
What is the causative agent of roseola infantum?
HHV-6 and 7
335
What is the prodrome of roseola infantum? Rash?
- Prodrome = acute fever without other symptoms
| - Maculopapular rash that appears as fever breaks
336
Maculopapular rash that appears as the high fever breaks = ?
Roseola infantum
337
What is the major complication associated with roseola infantum?
Febrile seizures
338
What are the characteristics of the prodrome and rash of VZV?
- Prodrome = mild fever, anorexia, malaise
| - Rash = generalized pruritic, teardrop vesicles on red base with lesions at *different* stages of healing
339
What are the characteristics of the prodrome and rash of hand foot and mouth disease?
- Prodrome = fever, anorexia, oral pain
| - Oral ulcers, maculopapular vesicular rash on the hands and feet, sometimes on buttocks
340
What are the components of the TORCHES infections?
- Toxoplasma
- Rubella
- CMV
- HIV
- Herpes
- Syphilis
341
What is the classic triad of s/sx for neonatal toxoplasmosis?
-Chorioretinitis
-Hydrocephalus
-Intracranial calcifications
(-blueberry muffin rash)
342
What are the neonatal manifestations of congenital CMV?
- Sensorineural hearing loss
- Petechial rash
- periventricular calcifications
343
What are the neonatal manifestations of congenital HIV?
Recurrent infections and diarrhea
344
What are the neonatal manifestations of congenital HSV-2
Encephalitis
345
What apgar scores is good?
8-10
346
What apgar score indicated the possible need for resuscitation?
4-7
347
What apgar scores indicates the immediate need to resuscitation?
3 or less
348
What are the components of the APGAR scores?
- Appearance
- Pulse
- Grimace
- Activity
- Respirations
349
Over what level of bilirubin does neonatal jaundice occur?
More than 5 mg/dL
350
What are scores 0-2 on the APGAR score for appearance?
```
0 = blue/pale diffusely
1= pink body with blue extremities
2 = Completely pink
```
351
What are scores 0-2 on the APGAR score for activity?
0 absent
1 = arms and legs flexed
2 = active movement
352
What are scores 0-2 on the APGAR score for pulse?
```
0 = absent
1 = less than 100
2 = more than 100
```
353
What are scores 0-2 on the APGAR score for respirations?
```
0 = absent
1 = slow, irregular respirations
2 = vigorous cry
```
354
What are scores 0-2 on the APGAR score for grimace?
```
0 = Flaccid
1 = some flexion of extremities
2 = active
```
355
Which type of hyperbilirubinemia is ALWAYS pathologic?
Conjugated
356
At what levels of bili does kernicterus appear?
25 or above
357
Which is associated with BWS: omphalocele vs gastroschisis?
Omphalocele
358
How does Kernicterus present clinically? (5)
- Lethargy
- Poor feeding
- High pitched cry
- Hypertonicity
- Seizures
359
What labs should be obtained for *indirect* hyperbilirubinemia in neonates? (3)
- CBC with PBS
- Blood typing of mother (for ABO/Rh)
- Coombs tests
360
What labs should be obtained for *direct* hyperbilirubinemia in neonates? (4)
- LFTs
- Bile acids
- blood cultures
- sweat test
- aminoacidopathies
361
A jaundiced neonate who is febrile, hypotensive, and/or tachypneic needs what sort of testing?
Sepsis workup
362
What is the treatment for unconjugated hyperbilirubinemia?
Phototherapy or exchange transfusions (if over 20 mg/dL)
363
What levels of bili should phototherapy and exchange transfusion be performed (respectively)?
- Photo = 10-15
| - Exchange = 25+
364
What is the role of phototherapy in conjugated hyperbilirubinemia?
No role
365
What are the components of the VACTERL sequence?
- Vertebral anomalies
- Anal
- cardiac
- tracheo
- Esophageal
- renal
- Limb
366
How does tracheoesophageal fistula present?
- Polyhydramnios
| - Drooling
367
How do you diagnose tracheoesophageal fistula?
CXR showing NG tube coiling
368
What is the presentation of a diaphragmatic hernia?
- Respiratory distress
- BS in the thorax
- pHTN
369
How do you diagnose a congenital diaphragmatic hernia?
US in utero, confirmed by postnatal CT
370
What is the stabilizing and definitive treatment for a congenital diaphragmatic hernia?
- ECMO or high frequency vent
| - Surgery
371
How does gastroschisis present in utero?
Polyhydramnios
372
What is the stabilizing treatment for gastroschisis?
Place sterile, saline soaked gauze over it
373
What is the stabilizing treatment for an omphalocele?
C-section can prevent sac rupture; if the sac is intact, postpone surgical correction until the patient is fully resuscitated. Keep the sac covered/stable with petroleum and gauze. Intermittent NG suction to prevent abdominal distention.
374
How does duodenal atresia present?
Bilious emesis within hours after the first feeding
375
What disorder is duodenal atresia associated with?
Downs
376
How do you diagnose duodenal atresia? What will this show?
AXR
| Double bubble
377
Jaundice within how many hours after birth is pathologic?
If present in the first 24 hours
378
What is the difference in rate of increase of bili in physiologic vs pathologic jaundice?
Physiologic = Less than 0.5 mg/dL/day
Path = more
379
What are the peak bili levels in physiologic vs pathologic jaundice?
Phys = 14-15 mg
Path = 15+
380
What percent of bili is direct bili in physio vs patho jaundice?
Physio = Less than 10%
Path = more than 10%
381
Within what timeframe does physiologic hyperbili resolve (term and preterm)?
Resolves by 1 week in term, 2 weeks in preterm.
382
What is the most common cause of respiratory failure in preterm infants?
NRDS
383
When does NRDS typically present?
first 48-72 hours
384
How is the diagnosis of NRDs confirmed?
CXR
385
What is the treatment for NRDS?
- CPAP ro intubation
| - Artificial surfactant
386
What are the preventative measures for NRDS?
Treat mothers with corticosteroids is less than 30 weeks.
387
An L/S ratio of what value is an indication for corticosteroid use in mothers?
2:1 or less
388
What are the two major complications that can arise from NRDS and its treatment?
- Bronchopulmonary dysplasia
| - Retinopathy of prematurity
389
What is cerebral palsy?
A range of nonhereditary, nonprogressive disorders of movement and posture, usually resulting from a prenatal neurologic insult
390
What are the two major forms of cerebral palsy?
- Pyramidal (spastic)
| - Extrapyramidal (dyskinetic)
391
What is the pyramidal (spastic) form of cerebral palsy?
Spastic paresis of any or all limbs. Accounts for 75% of cases. Intellectual disabilities are present in up to 90% of cases.
392
What is the extrapyramidal (dyskinetic) form of cerebral palsy?
A result of damage to extrapyramidal tracts. Subtypes are ataxic (difficulty coordinating purposeful movements), choreoathetoid, and dystonic (uncontrollable jerking, writhing, or posturing). Abnormal movements worsen with stress and disappear during sleep
393
What are the CXR findings in NRDS?
- Air bronchograms
| - Ground glass appearance
394
What are the CXR findings in transient tachypnea of the newborn?
Perihilar streaking in interlobular fissures
395
What are the CXR findings in meconium aspiration?
Coarse, irregular interlobular fissures
396
What are the CXR findings of congenital pneumonia?
Nonspecific patchy infiltrates
397
What is the most common presenting symptom of cerebral palsy?
Delayed motor development
398
What symptoms may be associated with cerebral palsy?
- Seizure disorders
- hearing/visual impairment
- speech deficits
399
What are the PE findings for cerebral palsy?
- hypertonicity/contractures
- hyperreflexia
- pathologic reflexes
400
What are the characteristics of the gait with cerebral palsy?
Toe walking, scissor gait
401
What is the treatment for cerebral palsy?
- PT
| - Diazepam, dantrolene, or baclofen for muscle spasticity
402
What age group is typically affected by febrile seizures?
6 months - 5 years
403
What is the definition of a simple febrile seizure?
Less than 15 minutes of a generalized, tonic-clonic seizures, with return to baseline after
404
What is the definition of a complex febrile seizures?
- More than 15 minutes
- multiple in 24 hours
- not returning to baseline immediately
405
True or false: simple febrile seizures do NOT cause brain damage
True
406
True or false: simple febrile seizures typically recur
False
407
True or false: there is an increased risk of epilepsy in pts with febrile seizures
false
408
What lab studies are needed for the first time episode of a simple febrile seizure?
None
409
What is the treatment for a febrile seizure?
antipyretics (avoid ASA)
A1
flashcards
Decks in class (32)
# Cards
-
Acid/Base5
-
Pulmonary115
-
Uworld/ Rx review198
-
Hematology200
-
Infectious Disease177
-
Derm197
-
Endocrine163
-
Cardio164
-
Epidemiology60
-
Ethics and legal issues6
-
Gastrointestinal277
-
Musculoskeletal193
-
Neurology158
-
Obstetrics248
-
Gynecology235
-
Peds409
-
Renal139
-
EM215
-
Peds 2120
-
ATLS Ch 1-283
-
ATLS CH 3-4120
-
ATLS-Abdominal Trauma46
-
ATLS-Head trauma58
-
ATLS-spine and spinal cord trauma81
-
ATLS- MSK injuries43
-
ATLS thermal injuries72
-
ATLS-pediatric trauma47
-
ATLS geriatric care9
-
ATLS pregnancy18
-
PALS ch 1138
-
Pals Ch 7.5 +202
-
Pals Algorithms29
