Recurrent abdominal pain, Hematochezia, Clubbing, Family History of Colon Ca
What is Familial Adenomatous Polyposis?
100
At what age can a child use a cup well?
What is 15-18 months?
100
A child with cyanotic hear disease presents with new onset headache and seizure. MRI shows a brain abscess. What is the most likely organism?
What is Staphylococcus aureus?
100
What is the best screening test for cushing syndrome?
What is 24-hour urinary free cortisol?
100
A newborn is noted to have herniation of meninges through a defect in the posterior vertebral arches. The spinal cord itself is normal. The area is well covered with skin. What is the diagnosis?
What is Meningocele?
200
Recurrent abdominal pain, Hematochezia, Mucosal pigmentation of the lips
What is Peutz-Jeghers Syndrome?
200
A 3-month-old with severe combined immunodeficiency presents for his first set of immunizations. Which commonly given immunization is contraindicated in him?
What is Rotavirus vaccine?
200
A patient from north Carolina presents with fever, headache, arthralgias, maculopapular rash on the extremities that become more petechial, serum sodium of 128 mg/dL and platelet count of 110,000.
10 year-old-boy presents with initial severe back pain that radiates to the front. This rapidly progresses to parapresis, lost of sphincter tone, and loss of pain and temperature sensation below the level of T7. What is the most likely diagnosis?
A child presents at 4 months of age for his first vaccines. Which commonly given vaccine is now too late to give to her?
What is Rotavirus vaccine?
300
A neonate presents with fever, and a blood culture grows Citrobacter. What is the next test you should consider ordering?
What is CT or MRI of the head?
300
A newborn girl presents with ambiguous genitalia, no salt-wasting, and hypertension?
What is 11B-hydroxylase Deficiency?
300
A 3-month-old girl presents with: hypotonia and weakness that is symmetric and with more proximal muscle involvement, her legs are more affected than her arms, difficulty feeding, tongue fasciculations, no sensory deficits are noted. What is the most likely diagnosis?
What is Severe infantile spinal muscular atrophy type 1 (SMA-1)
400
So far normal until 15 months, had started walking, Cannot walk now, hypotonia of LL with diminished DTR, In the next year loses ability to sit up, Further regresses, Develops decorticate posture
What is Metachromatic Leukodystrophy?
400
What is the cut-off age for giving DTap?
What is 7 years of age?
400
A child has a persistant tooth abscess that has been ignored for several weeks. Now he presents with drainage on the outside skin lateral to the infection of his molar. Stains of the drainage show yellow, "sulfur" granules. What is the most likely diagnosis?
What is Actinomyces?
400
Name the syndrome: 46XY, nephrophathy, renal failure common at 3 years of age, ambiguous genitalia, total deficiency of testicular function
What is Deny-Drash syndrome?
400
10-year-old boy has the following: morning myoclonic jerking, history of absence seizures, normal intelligence, family history of similar seizures, generalized tonic-clonic seizure occurring just after awaking or during sleep.
What is Juvenile Myoclonic Epilepsy? (Janz syndrome)
500
Patient with CF, Develops hypotonia and diminished DTR, Proximal muscle weakness
What is Vit E deficiency?
500
A child has not had any immunizations. Assuming that he is immunocompetent, what is the cut-off age for receiving a Haemophilus influenza type b vaccine?
What is 5 years old?
500
A 14 year-old-boy from Hawaii presents with the following: History of swimming in fresh-water lagoons, fever, myalgias, headache and jaundice. Bilirubin is disproportionately high compared to AST/ALT, which are each mildly elevated. Creatine is 1.9. What is the most likely diagnosis?
What is Leptospirosis?
500
12 year-old-girl has the following: Type 1 DM, autoimmune thyroiditis, adrenal cortical insufficiency. What is the diagnosis?
What is Schmidt Syndrome?
500
A 2-year-old child with history of infantile spasms has gradually developed the following findings: severe tonic seizures and mental retardation. An EEG done shows generalized, bilateral synchronous, sharp-wave and slow-wave complexes, occurring in a repetitive fashion in long runs at ~2/seconds. What syndrome does the most likely diagnosis?