MedStudy Question Bank Flashcards
1
Q
When does adrenal crisis occur in congenital adrenal hyperplasia (CAH)?
A
Adrenal crisis at 1-2 weeks of life (normal newborn period)
2
Q
What is the presentation of Sotos syndrome?
A
Intellectual impairment, overgrowth, and developmental delay without endocrinologic issues
3
Q
What is the first step in evaluation of a patient with tall stature and signs of precocious puberty?
A
Bone age
4
Q
What are the cancer screening guidelines in patients with Beckwith-Wiedemann syndrome?
A
Complete abdominal US and alpha-fetoprotein every 3 months until 4 years of age and then renal US every 3 months from 4-7 years of age
5
Q
What is the growth pattern in Sotos syndrome?
A
Accelerated growth for first 5 years of life then return to normal thereafter
6
Q
Which test can differentiate between constitutional growth delay and genetic short stature?
A
Bone age
Constitutional growth delay: delayed bone age
Genetic short stature: normal bone age
7
Q
What is the presentation of Wolfram syndrome?
A
Central DI, DM, optic atrophy, deafness
8
Q
What are the characteristic lab findings in primary polydipsia?
A
Low sodium and low serum osmolality
9
Q
Which cardiac lesion is commonly associated with Williams syndrome?
A
Supravalvular aortic stenosis
10
Q
What is the upper limit of normal of peak pubertal growth in males and females?
A
Males: by 16 years of age
Females: by 14 years of age
11
Q
Which risk factor is associated with development of follicular ovarian cysts?
A
Cigarette smoking
12
Q
What is the cause of familial male-limited gonadotropin-independent precocious puberty?
A
Activating mutation in LH receptor
13
Q
What is the definition of precocious puberty?
A
Puberty < 9 years of age in boys and < 8 years of age in girls
14
Q
When is peak height velocity in females?
A
Between thelarche (10-11 years of age) and menarche (11-12 years of age)
SMR 2-3
15
Q
Which 4 common AEDs induce CYP450?
A
Carbamazepine, phenytoin, phenobarbital, topiramate
16
Q
What is the average time between thelarche and onset of menarche?
A
2-2.5 years
17
Q
What is the most common cause of toileting refusal in young children?
A
Strong will
Will often void in the toilet but not stool
18
Q
What is the classic XR finding in rickets?
A
Cupping and fraying of metaphysis
19
Q
What is the appropriate management of a baby born to a mother who is HBsAg-positive?
A
HBIG and hep B vaccine at birth followed by hep B vaccine at normal intervals (2 months, 6 months) and lab evaluation (HBsAg and anti-HBsAg) at 9-12 months
20
Q
What is the Pelger-Huet nuclear anomaly?
A
Hyposegmented neutrophil in setting of malignancy or genetic anomaly
21
Q
What is guttate psoriasis?
A
Erythematous scaly papules associated with concurrent Strep infection
22
Q
What is the first-line treatment of alopecia areata?
A
Intralesional corticosteroids
23
Q
What is the difference in appearance of tinea capitis and alopecia areata?
A
Both cause localized area of hair loss but tinea capitis has scaling
24
Q
Which triptan is FDA-approved for young children?
A
Rizatriptan
25
What is the difference in presentation of alpha-1-antitrypsin deficiency in children and adults?
**Children**: liver disease
**Adults**: liver AND lung disease
26
What is the most common lab abnormality associated with anabolic steroid misuse?
Increased LFTs
27
Which lab can distinguish between hypoparathyroidism and pseudohypoparathyroidism?
**Hypoparathyroidism**: normal PTH
**Pseudohypoparathyroidism**: high PTH
## Footnote
Both present with low calcium and high phosphorous
28
What is the presentation of mucopolysaccharidosis type 2 (Hunter syndrome)?
Coarse facial features, hypertelorism, joint stiffness, myocardial hypertrophy, pulmonary HTN
29
What is the management of epidural hematoma?
| `
Urgent NSGY evaluation due to lucid interval followed by herniation
30
What is the management of children with parvovirus B19 infections who are around pregnant women?
Can return to those settings once slapped-cheek rash appears because that indicates end of contagious period
31
When do night terrors occur during the sleep cycle?
Non-REM sleep during first 1/3 of the night
32
What is the presentation of chancroid?
Painful unilateral inguinal LAD associated with painful genital ulcer
33
What is the cause of chancroid?
H. ducreyi
34
What is the most common bacteria that causes blistering distal dactylitis?
Group A Strep
35
At what age can children sit without support?
9 months
36
What is the presentation of Peutz-Jeghers syndrome?
Intestinal hamartomas (causing colicky abdominal pain secondary to intussusception) and mucocutaneous nodules in the mouth and around the lips
37
What bone abnormality is seen in lead poisoning?
Linear hyperdensities in the metaphyses of bone (lead lines)
38
What capillary lead level warrants confirmation with a venous sample?
> 5
39
What lead level necessitates chelation?
45+
40
What is the management of urethral prolapse in females?
Topical estrogen cream
41
What is the treatment of dermatitis herpetiformis?
Dapsone
42
What is the presentation of pityriasis lichenoides et varioliformis acuta (PLEVA)?
Papules with hemorrhagic crusting followed by hypopigmented or hyperpigmented macules
43
What is the treatment for pityriasis lichenoides et varioliformis acuta (PLEVA)?
Oral tetracyclines
44
What is the inheritance pattern of G6PD deficiency?
X-linked recessive
45
What is the presentation of Mayer-Rokitansky-Kuster-Hauser syndrome?
Underdeveloped upper vagina and uterus
46
Which nerve roots are affected in Erb and Klumpke palsies?
**Erb**: C5, C6
**Klumpke**: C8, T1
47
What is the appropriate post-exposure prophylaxis after exposure to hep A in unimmunized individuals?
Hep A vaccine (preferred) or immunoglobulin
48
Which STI is associated with punctate hemorrhages on the vagina and cervix?
Trichomoniasis
49
What is the treatment for bacterial vaginosis?
Metronidazole for 7 days
50
What is a highly specific antibody for lupus?
Anti-smith antibody
51
Which lab tests are typically positive in rheumatoid arthritis?
RF and anti-CCP antibody
52
What is the management of nevus sebaceous?
Elective excision due to cosmetic concerns and risk of malignant transformation
53
What is the presentation of Alport syndrome?
Glomerulonephritis and hearing loss
54
What is the diagnosis of a child who recently underwent cardiac surgery who presents several weeks later with cough, fever, dyspnea, and chest pain?
Post-pericardiotomy syndrome
55
Which cardiac anomalies are associated with a biphasic pulse?
Aortic stenosis and hypertrophic obstructive cardiomyopathy
56
What is the management of juvenile plantar dermatosis?
Avoid impermeable shoes, absorbent powders, and topical emollients
## Footnote
"Sweaty sock syndrome"
57
Which age group is at the highest risk of child abuse?
Birth-1 year
58
At what ages do Wilms tumors typically present?
3-4
59
Which genetic mutation is commonly associated with hereditary pancreatitis?
PRSS1
60
Which genetic mutation is strongly associated with Crohn's disease?
NOD2
61
Which genetic mutation is associated with Alagille syndrome?
JAG1
62
What is the management of children < 12 months of age who are traveling to measles-endemic areas?
1 MMR vaccine in children 6-12 months
## Footnote
Children < 6 months still have protection from transplacental antibodies
63
What are the most significant risk factors for later development of asthma?
Parent with asthma and/or personal history of concurrent eczema
64
When should children develop a pincer grasp?
12 months
65
How does selenium deficiency present?
Hypothyroidism and cardiomyopathy
66
At what ages is separation anxiety developmentally appropriate?
6 months-3 years
67
Which cardiac anomaly is associated with a fixed split S2?
ASD
68
What is the presentation of phenylketonuria?
Light-colored hair and skin, eczema, seizures, developmental delay
69
What is the cause of homocystinuria?
Deficiency of cystathionine beta-synthase
70
How does homocystinuria present?
Marfanoid body habitus, downward dislocation of the lens, thromboembolism
71
What are the tetanus immunoglobulin and vaccine guidelines after a wound?
## Footnote
Tdap preferred over Td in children > 7
72
What is the first-line treatment for idiopathic intracranial hypertension?
Acetazolamide
## Footnote
Carbonic anhydrase inhibitor
73
What is the presentation of Denys-Drash syndrome?
Wilms tumor, nephropathy, ambiguous genitalia
74
Which disease is associated with anti-smooth muscle antibody?
Autoimmune hepatitis
75
What neutrophil count is expected in cyclic neutropenia?
< 200
76
Where is the pain in tennis elbow versus golfer's elbow?
**Tennis elbow**: lateral epicondyle
**Golfer's elbow**: medial epicondyle
77
Which limb abnormality is associated with trisomy 13?
Polydactyly
78
What is the main presentation of Klippel-Feil syndrome?
Fusion of cervical vertebrae
79
What is the first step in management of eosinophilic esophagitis?
Elimination of cow's milk
80
What are important adverse effects of IUDs?
Uterine perforation and menstrual irregularities
81
When is the peak incidence of ALL?
2-5 years
82
What ages are poor prognostic indicators in ALL?
< 1 or > 10 years
83
What WBC count at diagnosis is a poor prognostic indicator in ALL?
> 50,000
84
What is the presentation of tyrosinemia type I?
Hepatic and renal dysfunction
85
How is tyrosinemia type I diagnosed?
Urine succinylacetone level
## Footnote
Presents with hepatic and renal dysfunction
86
What is the treatment of tyrosinemia type I?
NTBC
87
What lab findings are associated with fatty acid oxidation disorders?
Hypoglycemia with absence of urine reducing substances and ketones
88
How are fatty acid oxidation disorders diagnosed?
Plasma acylcarnitine profile
89
What is the presentation of nail-patella syndrome?
Nail hypoplasia or dysplasia, orthopedic anomalies, and kidney disease
90
What are the primary physical exam findings in Fanconi anemia?
Hypoplastic thumbs, hyperpigmented skin and/or cafe-au-lait spots, short stature, abnormal radii
91
Which type of cancer are patients with Fanconi anemia most at risk of developing?
AML
92
Which infection is associated with rash that develops after defervescence?
**Roseola** caused by HHV-6
93
What are the guidelines for screening children for hyperlipidemia?
All children 9-11 and 17-21
## Footnote
High-risk patients such as those with obesity or strong family history of hyperlipidemia/metabolic syndrome/MI should be screened between 2-8
94
What is the pathognomonic EEG finding with benign childhood epilepsy?
Centrotemporal spikes
95
What type of seizure is typical of benign childhood epilepsy?
Focal aware seizure
96
What is the management of Klinefelter syndrome?
Testosterone replacement
97
Which condition is associated with cardiac rhabdomyomas early in life?
Tuberous sclerosis
98
What is the hallmark pulmonary finding in Alagille syndrome?
Peripheral pulmonary stenosis
99
What is the hallmark orthopedic finding in Alagille syndrome?
Butterfly vertebrae
100
Which malignancy is associated with opsomyoclonus?
Neuroblastoma
101
Which lab findings are associated with neuroblastoma?
Elevated urinary HVA and VMA
102
What is the first-line treatment for head lice?
Topical permethrin
103
What is the cause of myotonic dystrophy?
CTG repeats in DMPK gene
104
How does myotonic dystrophy present?
Weakness of distal muscles with relative sparing of proximal strength, facial muscle atrophy, cardiac abnormalities
105
What is the recommended maximum of juice intake for children under the age of 5?
No more than 6 oz per day
106
What is a possible neurologic consequence of chronic cocaine use?
Ischemic or hemorrhagic stroke
107
What is the most common complication of sickle cell disease in children less than 2?
Dactylitis
108
What are the relative dystrophin levels in Becker muscular dystrophy and Duchenne muscular dystrophy?
**Becker**: reduced
**Duchenne**: absent
109
Which muscle groups are typically affected in myotonic dystrophy?
Face and jaw
110
Which groups need antibiotic prophylaxis against infective endocarditis?
Patients with a prosthetic heart valve, unrepaired cyanotic heart disease, repaired congenital heart defect (for first 6 months after repair)
111
What is the next diagnostic step if a RUQ US is equivocal for cholecystitis but clinical suspicion remains high?
HIDA scan
112
Which antibodies are seen in glomerulonephritis after Strep pharyngitis and impetigo?
**Strep pharyngitis**: ASO
**Impetigo**: anti-DNAse B
113
What are the most common adverse effects of long-acting progestin contraception?
Irregular menses and delayed return of fertility
114
When can children with Strep throat return to school?
Afebrile and on antibiotics for at least 12 hours
115
Which lab findings are associated with autoimmune hepatitis?
Hypergammaglobulinemia (high IgG) and anti-smooth muscle antibiodies
116
What is the presentation of essential fatty acid deficiency?
Delayed neurodevelopment, eczematous dermatitis, reduced growth velocity
117
What is the vaccine schedule for PCV-13?
2, 4, 6 months followed by 12-5 months
118
What are the typical symptoms of hyperimmunoglobulin D syndrome?
Periodic fever with tender LAD, abdominal pain, arthralgias/arthritis, splenomegaly
119
What is the preferred treatment of infantile spasms secondary to tuberous sclerosis?
Vigabatrin
120
Which nutritional deficiency is associated with development of hypothyroidism?
Selenium deficiency
121
What is the presentation of adrenoleukodystrophy?
Behvioral issues, hyperpigmentation, gait issues, slurred speech
122
What lab finding is associated with adrenoleukodystrophy?
Elevated levels of very long-chain fatty acids
123
Which mutation is associated with Prader-Willi syndrome?
Chromosome 15q
124
How is Fanconi anemia diagnosed?
Chromosomal breakage analysis followed by genetic sequencing
125
What are the adverse effects of creatine?
Muscle cramps and weight gain
126
What is the management of juvenile fibroadenomas of the breast?
Observation and reevaluation every 1-2 months if < 3 cm
127
What is the refrigerator shelf life of breast milk?
4 days
128
How does early- and late-onset Listeria infection present in neonates?
**Early-onset**: PNA, sepsis
**Late-onset**: meningitis
## Footnote
Early-onset = < 7 days
129
What is the silk-glove sign?
Suggests inguinal hernia rather than hydrocele
## Footnote
Secondary to persistent processus vaginalis
130
Which age group should receive antibiotic treatment for Salmonella gastroenteritis?
< 3 months
131
What is the typical cause of infectious mono if EBV is negative?
CMV
132
Which lab finding is characteristic of alkaptonuria?
Elevated homogentisic acid
133
What is the difference in presentation of nightmares and night terrors?
**Nightmares**: vivid remembrance of the dream
**Night terrors**: distress with no recollection of the dream
134
What is the most common pathogen that causes chronic rhinosinusitis?
S. aureus
135
What is the most common pathogen that causes acute otitis media?
S. pneumo
136
When do patients with X-linked agammaglobulinemia start to develop infections?
~4-6 months of age when transplacentally acquired antibodies decline
137
Which disease is associated with anti-histone antibodies?
Drug-induced lupus
138
What are the most common bacteria that cause osteomyelitis in patients with sickle cell disease?
S. aureus and Salmonella
139
Which cardiac anomaly is associated with Noonan syndrome?
Pulmonic stenosis
140
What is the expected testicular volume at the end of puberty?
~ 20 mL
141
What is the management of acute adrenal crisis?
Hydrocortisone 50-100 mg/m2
## Footnote
Fludrocortisone not needed because high-dose hydrocortisone has mineralocorticoid effects
142
Which lab findings can be expected in the window period for acute hepatitis B infection?
Negative HBsAg and positive anti-HBc IgM
143
How does spasmus nutans present?
Nystagmus, torticollis, and head nodding
144
How does Parinaud syndrome present?
Impaired upward gaze, nystagmus, and dilated pupils
145
Which tetanus vaccine preparation is indicated for previously unvaccinated children > 7 years?
Tdap
146
When would an IPV booster be indicated prior to international travel?
Adults 18+ years of age, even those with 4 previous IPV vaccines
## Footnote
4 doses of IPV confers lifelong immunity but should receive another dose as a precaution
147
What is the Russell sign?
Calluses on knuckles secondary to repeated induced vomiting
## Footnote
Often seen with bulimia
148
What is the required minimum interval between administration of live vaccines?
1 month
149
Which biomarkers are associated with Langerhans cell histiocytosis?
CD1a, CD207, S100
150
Which cardiac manifestation is associated with congenital rubella?
PDA
151
Which medical conditions are associated with increased risk of SCFE?
Hypothyroidism and GH deficiency
152
What is the preferred treatment of tularemia?
Gentamicin or streptomycin
153
What are the components of tetralogy of Fallot?
Large VSD, right ventricular outflow obstruction, RVH, and overriding aorta
154
How does partial androgen insensitivity present?
Ambiguous genitalia at birth
155
How do NF1 and NF2 present?
**NF1**: cafe-au-lait spots, neurofibromas, Lisch nodules, optic glioma
**NF2**: bilateral acoustic neuromas (schwannoma)
156
Which congenital anomalies are associated with warfarin use during pregnancy?
Nasal hypoplasia and stippled epiphyses
157
Which congenital anomalies are associated with anti-epileptic use during pregnancy?
Neural tube defects
158
Which cardiac anomalies are associated with fetal alcohol syndrome?
VSD and ASD
159
What is a common adverse effect of inhalant abuse?
Pneumothorax and pneumomediastinum
160
How can Noonan syndrome be easily differentiated from Turner syndrome?
Pulmonic murmurs and hypertelorism
161
What type of intussusception is associated with IgA vasculitis (HSP)?
Ileoileal
## Footnote
In contrast to ileocolic with idiopathic intussusception
162
What is the treatment of cutaneous larva migrans?
Albendazole or ivermectin
163
What is the treatment of neonatal chlamydia conjunctivitis?
Oral erythromycin
164
What is the empiric treatment of gonorrhea and chlamydia?
Ceftriaxone x1 for gonorrhea and doxycycline x10 days for chlamydia
165
What is appropriate post-exposure prophylaxis for pertussis?
Azithromycin
## Footnote
Can use erythromycin or clarithromycin but avoided in children < 1 month of age due to risk of pyloric stenosis (especially with erythromycin)
166
What is a main contraindication to ketamine?
Age < 3 months of age
167
Which condition is associated with benign paroxysmal vertigo of childhood?
Increased risk of later development of **migraines**
168
What is typically the first sign of Rett syndrome?
Deceleration of head circumference growth at ~3 months of age
169
What is the presentation of incontinentia pigmenti?
Vesicles and bullae in a swirling pattern, dental abnormalities, and peripheral eosinophilia
170
What is the mutation in Kallmann syndrome?
Mutation in ANOS1 at Xp22.3
171
Which mutation leads to Noonan syndrome?
Deletion of chromosome 12q
172
What EKG findings are seen in Wolff-Parkinson-White syndrome?
Shortened PR and prolonged QRS intervals
173
When is the typical onset of gonorrhea and chlamydia conjunctivitis in neonates?
**Gonorrhea**: early at 2-5 days of age
**Chlamydia**: later at 5-12 days of age
174
What are the causes of pseudohyperkalemia?
Thrombocytosis and leukocytosis
175
What is the presentation of Waardenburg syndrome?
Premature graying, hearing loss, and iris heterochromia
176
What is the most common presentation of Meckel diverticulum in children?
SBO
## Footnote
Can also present with **painless** bright red bleeding per rectum
177
Where is the tumor often located in neuroblastoma?
Adrenal glands
178
What is Legg-Calve-Perthes disease?
Avascular necrosis of the hip
179
Where is the pain localized in Osgood-Schlatter disease?
Tibial tuberosity
180
What is failure modes and effects analysis (FMEA)?
Proactively identifying and addressing potential sources of failure **before** sentinel events occur
181
When can most children walk up and down the stairs with one foot on each step?
4 years of age
182
When can most children hop on one foot?
5 years of age
183
What is the treatment of linear IgA bullous dermatosis?
Dapsone
184
When can a tuberculin skin test be performed after MMR administration?
**4-6 weeks after MMR administration** because it temporarily suppresses tuberculin skin test activity
## Footnote
Okay to get TB test on same day as MMR administration
185
What is the pathophysiology of factor 5 Leiden mutation?
Protein C resistance
186
What is the difference between Apert and Crouzon syndromes?
Both cause craniosynostosis but **Apert syndrome also causes syndactyly of the 2nd-4th digits**
187
What is found on a CBC in pertussis?
Leukocytosis with lymphocytic predominance
188
Which interstitial lung disease is associated with HIV in children?
Lymphocytic interstitial pneumonitis
189
What are the criteria for psoriatic arthritis?
Arthritis and psoriasis **OR** arthritis and 2/3 of the following:
* dactylitis
* nail findings
* first-degree relative with psoriasis
190
How long should individuals with mono and splenomegaly refrain from strenuous exercise and contact sports?
At least 4 weeks **and** until the spleen recedes
191
What is the appropriate post-exposure prophylaxis against measles in children < 1 year of age?
**< 6 months of age**: IMIG or IVIG
**6-12 months of age**: MMR vaccine or IMIG or IVIG
192
What is the presentation of roseola?
Rash following defervescence, palpebral/periorbital edema, papules on soft palate and uvula
193
What is the presentation of Chediak-Higashi syndrome?
Oculocutaneous albinism and immunodeficiency (skin and mucosal infections)
## Footnote
Large granules in leukocytes
194
Which congenital cardiac anomaly is associated with a snowman appearance on CXR?
TAPVR
195
Which nutritional deficiency is associated with corn-heavy diets?
Nicotinic acid (vitamin B3) leading to pellagra
## Footnote
Diarrhea, dementia, dermatitis
196
# ```
```
What are the symptoms of riboflavin (vitamin B2) deficiency?
Cheilosis and sore tongue
197
What are the symptoms of thiamine deficiency?
Wernicke's encephalopathy (ophthalmoplegia, ataxia, and confusion) and cardiac dysfunction
198
What is the recommended vaccine schedule to prevent against Neisseria infection in asplenic infants?
MenACWY-CRM (Menveo) at 2, 4, 6, and 12 months of age
199
What do eosinophils look like on peripheral smear?
Bilobed cells with granules
200
201
What are the FSH and LH levels in PCOS?
**Increased LH:FSH** but absolute LH and FSH are usually within normal range
202
When should antihistamines be stopped prior to skin prick testing?
**Short-acting antihistamines**: stop 48 hours before testing
**Long-acting antihistamines**: stop 5 days before testing
203
What is Smith-Lemli-Opitz syndrome?
Disorder of cholesterol metabolism leading to **elevated 7-dehydrocholesterol levels** and decreased plasma cholesterol levels along with microcephaly, micrognathia, and hypertelorism
204
What is Menkes disease?
Disorder of copper metabolism leading to **decreased copper and ceruloplasmin levels**
205
What is the mutation in Tay-Sachs disease?
Beta-hexosaminidase
206
Which drugs are most commonly implicated in toxic epidermal necrolysis (TEN)?
Anti-seizure medications (i.e. carbamazepine and phenobarbital), penicillins, and cephalosporins
207
What is the treatment for cholinergic toxicity in the setting of organophosphate exposure/ingestion?
**Atropine** (blocks ACh receptor) and **pralidoxime** (prevents irreversible binding to cholinesterase)
208
How is Becker muscular dystrophy different than Duchenne muscular dystrophy?
Later onset (late childhood into adolescence) and milder course
209
Which potential adverse effect is associated with MMRV vaccine as opposed to separate MMR and varicella vaccines?
Febrile seizures
210
What is the presentation of congenital varicella infection?
Abnormalities of the eyes (i.e. cataracts), limbs, skin (i.e. scarring), and CNS
211
Which condition is most associated with aplasia cutis congenita?
Trisomy 13
212
What is the treatment of metabolic crisis in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency?
Carnitine supplementation
213
What are the symptoms of hypervitaminosis A?
Hepatomegaly, bone pain secondary to hyperostosis, dry skin and mucous membranes, pseudotumor cerebri
214
What is the appearance of tinea versicolor under the microscope?
Spaghetti and meatball appearance
215
Which condition is associated with rash just during febrile episodes?
Systemic JIA
216
Which lab finding is associated with chlamydia PNA?
Peripheral eosinophilia
217
What is the treatment of complicated Lyme disease (i.e. with meningitis and/or carditis)?
Ceftriaxone
218
What are the screening and confirmatory tests for Lyme disease?
**Screening**: ELISA
**Confirmatory**: Western blot
219
What are the symptoms of Behcet's disease?
Recurrent oral aphthous ulcers, neurologic complications, and arterial aneurysms
220
What affect does splenic sequestration have on platelets?
**Thrombocytopenia** due to sequestration of platelets in the spleen
221
Which condition can occur concomittantly with lupus and increase risk of pyogenic infections?
C2 deficiency
222
What is the presentation of properdin deficiency?
Recurrent meningococcal infection
223
What is considered a normal sweat chloride test result?
< 40
224
What is the presentation of Shwachman-Diamond syndrome?
Cytopenias with neutropenia, bifid thumbs, growth failure, pancreatic insufficiency
## Footnote
Often compared to CF because both present with pancreatic insufficiency
225
What is the treatment of lymphogranuloma venereum?
Doxycycline for 3 weeks
226
Which bacteria causes lymphogranuloma venereum?
Chlamydia trachomatis
227
What is the most common cardiac abnormality in Turner syndrome?
Bicuspid aortic valve
## Footnote
Coarctation of aorta is second most common anomaly
228
What is the appropriate post-exposure prophylaxis against varicella?
Unimmunized close contacts > 1 year of age should receive varicella vaccine
229
What are the expected lab values in central hypothyroidism?
Low free T4 and inappropriately low TSH
## Footnote
TSH should elevate in response to low free T4 in cases of primary (and not central) hypothyroidism
230
Which benign neonatal rash is associated with neutrophils under the microscope?
Transient neonatal pustular melanosis
231
When should patients with cryptorchidism be referred to surgery?
6 months of age
232
After patients with trisomy 21 develop transient myeloproliferative disorder, which cancer are they at higher risk of developing in the future?
AML
233
What is the most common cause of erythema multiforme?
HSV
234
What are the criteria for simple febrile seizure?
* < 15 minutes
* Only 1 episode in 24 hours
* Generalized seizure
235
What is the most common adverse effect of L-asparaginase?
Pancreatitis
236
What is the cause of Bernard-Soulier syndrome?
Deficiency of glycoprotein 1b
237
Which seizure/mood medication is associated with hyponatremia?
Oxcarbazepine
238
If manual detorsion of a testicle is attempted, which direction of rotation is appropriate?
Outward
239
Which finding can differentiate between PCP and cocaine use?
PCP causes **nystagmus** whereas cocaine does not
240
Which lab finding is seen in Lesch-Nyhan syndrome?
Elevated uric acid levels in blood and urine
## Footnote
Caused by mutation in enzyme responsible for hypoxanthine metabolism
241
Which cardiac anomaly is associated with an "egg on a string" appearance on CXR?
d-TGA
242
What differentiates SJS and TEN?
**SJS**: < 10% epidermal detachment
**TEN**: > 30% epidermal detachment
## Footnote
Patients with 10-30% epidermal detachment are considered to have a **mixed** picture
243
What is the treatment for serotonin syndrome?
Cyproheptadine
244
What birth weight threshold is associated with neonatal hypoglycemia?
< 2500 g
245
When can children draw a circle?
3 years of age
246
