Pediatrics MCCQE1| 138 QUESTIONS| WITH
COMPLETE SOLUTIONS
Absent seizures duration, presentation clinically and
diagnostically, and tx correct answer: • Present 4-10 yo
• Brief (<20 seconds) impairment of consciousness (staring
spells)
• Preserved muscle tone
• Unresponsive to tactile/verbal stimulation
• Simple automatisms frequently present
• Provoked by hyperventilation
• Dx: EEG: 3-Hz spike-wave discharges
• Comorbidities: ADHD, anxiety
• Rx: Ethosuximide
Alport syndrome clinical presentation correct answer: •
Recurrent gross hematuria and proteinuria in childhood
• Family Hx of renal failure
• Sensorineural deafness
Alport syndrome: renal biopsy demonstrates? correct answer: •
Renal biopsy: foam cells. Electron microscopy shows areas of
thinned and thickened capillary loops with splitting of GBM
Angelman syndrome- which chromosome correct answer: •
Deletion of maternal copy of chromosome 15q11-q13
Angelman clinical presentaiton correct answer: • Short stature,
intellectual disability
• Unique: Smiling/laughter, hand-flapping, ataxia, seizures
,APGAR 0 POINTS correct answer: blue, no pulse, no tone, no
grimace, and no repstory effort
APGAR 1 POINT correct answer: acrocyatnosis <100 grimace,
fleion, slow weak cry
APGAR 2 POINTS correct answer: pink >100, cough/cry
active, regular good rbrathing
Beckwith-Wiedemann syndrome
chromosome and presentaiton correct answer: • Deregulation on
imprinted gene expression 11p15 (Insulin like growth factor II)
• Fetal macrosomia, rapid growth until late childhood
• Hemihyperplasia
• Macroglossia (large tongue), omphalocele or umbilical hernia
• Hyperinsulinism
Associated with
• Wilms tumor, hepatoblastoma
Backwith-wideman screening correct answer: • Screening abdo
U/S and α-fetoprotein levels every 3 months from birth to 4
years, then abdo U/S q3months 4-8 yo, then renal U/S from 8 to
adolescence
Biliary atresia- lab abormality and clinical presentation correct
answer: • Presents 1-8 weeks after birth
• Jaundice, acholic stool (pale) or dark urine, hepatomegaly
• Conjugated hyperbilirubinemia
, Investigations and tx of biliary atresia correct answer: • First,
U/S (absent or abnormal gallbladder), Hepatobiliary
scintigraphy (failure of tracer excretion), Liver biopsy,
intraoperative cholangiogram (gold standard)
• Kasai procedure. Will most likely need liver transplant
Breastfeeding failure jaundice- clinical presetnation and lab
abnormality correct answer: • Due to inadequate breast feeding
• Reduced stooling leading to decreased bili elimination and
hyperbili
• Also results in dehydration and "brick red" urate crystals in
urine
Celiac dz GI symptoms correct answer: • Abdo pain,
nausea/vomiting, diarrhea, flatulence and bloating
Extraintestinal symptoms
• Short stature and weight loss
• Iron deficiency anemia
• Dermatitis herpetiformis (pruritic popular or vesicular rash on
knees, elbows, forearms and buttocks)
Diagnosis of celiac disease- also what does the duodenal biopsy
show? correct answer: Dx:
• Tissue transglutaminase IgA antibodies
• Anti-endomysial antibodies
• Duodenal biopsy showing intraepithelial lymphocytes and
flattened villi
Choanal atresia presentation correct answer: • Newborn that has
cyanosis that is aggravated by feeding and relieved by crying
• Failure of posterior nasal passage to canalize
COMPLETE SOLUTIONS
Absent seizures duration, presentation clinically and
diagnostically, and tx correct answer: • Present 4-10 yo
• Brief (<20 seconds) impairment of consciousness (staring
spells)
• Preserved muscle tone
• Unresponsive to tactile/verbal stimulation
• Simple automatisms frequently present
• Provoked by hyperventilation
• Dx: EEG: 3-Hz spike-wave discharges
• Comorbidities: ADHD, anxiety
• Rx: Ethosuximide
Alport syndrome clinical presentation correct answer: •
Recurrent gross hematuria and proteinuria in childhood
• Family Hx of renal failure
• Sensorineural deafness
Alport syndrome: renal biopsy demonstrates? correct answer: •
Renal biopsy: foam cells. Electron microscopy shows areas of
thinned and thickened capillary loops with splitting of GBM
Angelman syndrome- which chromosome correct answer: •
Deletion of maternal copy of chromosome 15q11-q13
Angelman clinical presentaiton correct answer: • Short stature,
intellectual disability
• Unique: Smiling/laughter, hand-flapping, ataxia, seizures
,APGAR 0 POINTS correct answer: blue, no pulse, no tone, no
grimace, and no repstory effort
APGAR 1 POINT correct answer: acrocyatnosis <100 grimace,
fleion, slow weak cry
APGAR 2 POINTS correct answer: pink >100, cough/cry
active, regular good rbrathing
Beckwith-Wiedemann syndrome
chromosome and presentaiton correct answer: • Deregulation on
imprinted gene expression 11p15 (Insulin like growth factor II)
• Fetal macrosomia, rapid growth until late childhood
• Hemihyperplasia
• Macroglossia (large tongue), omphalocele or umbilical hernia
• Hyperinsulinism
Associated with
• Wilms tumor, hepatoblastoma
Backwith-wideman screening correct answer: • Screening abdo
U/S and α-fetoprotein levels every 3 months from birth to 4
years, then abdo U/S q3months 4-8 yo, then renal U/S from 8 to
adolescence
Biliary atresia- lab abormality and clinical presentation correct
answer: • Presents 1-8 weeks after birth
• Jaundice, acholic stool (pale) or dark urine, hepatomegaly
• Conjugated hyperbilirubinemia
, Investigations and tx of biliary atresia correct answer: • First,
U/S (absent or abnormal gallbladder), Hepatobiliary
scintigraphy (failure of tracer excretion), Liver biopsy,
intraoperative cholangiogram (gold standard)
• Kasai procedure. Will most likely need liver transplant
Breastfeeding failure jaundice- clinical presetnation and lab
abnormality correct answer: • Due to inadequate breast feeding
• Reduced stooling leading to decreased bili elimination and
hyperbili
• Also results in dehydration and "brick red" urate crystals in
urine
Celiac dz GI symptoms correct answer: • Abdo pain,
nausea/vomiting, diarrhea, flatulence and bloating
Extraintestinal symptoms
• Short stature and weight loss
• Iron deficiency anemia
• Dermatitis herpetiformis (pruritic popular or vesicular rash on
knees, elbows, forearms and buttocks)
Diagnosis of celiac disease- also what does the duodenal biopsy
show? correct answer: Dx:
• Tissue transglutaminase IgA antibodies
• Anti-endomysial antibodies
• Duodenal biopsy showing intraepithelial lymphocytes and
flattened villi
Choanal atresia presentation correct answer: • Newborn that has
cyanosis that is aggravated by feeding and relieved by crying
• Failure of posterior nasal passage to canalize
