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Question 1
Which enzyme deficiency causes Tay-Sachs disease?
- Hexosaminidase A
- Alpha-L-iduronidase
- Galactose-1-phosphate uridylyltransferase
- Glucocerebrosidase
Question 2
The most common tumor of the pineal gland is a ______.
Fill in the blank
Question 3
Which finding is characteristic of neuroblastoma metastatic to the periorbital region?
- Periorbital ecchymoses
- Periorbital edema with jaundice
- Uveitis
- Ectropion
Question 4
Fanconi anemia is characterized by defective DNA repair and can cause absent radii or thumbs.
- True
- False
Question 5
A child with recurrent infections due to Staphylococcus aureus, Serratia marcescens, Nocardia, and Aspergillus most likely has which condition?
- Chronic granulomatous disease
- Selective IgA deficiency
- Wiskott-Aldrich syndrome
- Hyper-IgM syndrome
Question 6
Which vitamin deficiency can cause bleeding?
- Vitamin K
- Vitamin E
- Vitamin D
- Vitamin C
Question 7
An infant with congenital CMV infection is most likely to have which head CT finding?
- Periventricular calcifications
- Diffuse intracranial calcifications
- Cerebellar hypoplasia
- Subdural hemorrhage
Question 8
Jervell and Lange-Nielsen syndrome is autosomal dominant and does not cause deafness.
- False
- True
Question 9
Which of the following is a known association of infantile glaucoma?
- Mucopolysaccharidosis type I
- Phenylketonuria
- Cystic fibrosis
- Sickle cell disease
Question 10
What mechanism typically causes radial head subluxation in a child?
- A sharp pull on the hand while the forearm is pronated and the elbow is extended
- A fall onto an outstretched hand with the forearm supinated
- Direct blow to the lateral elbow
- Forceful pronation of the forearm with the elbow flexed
Question 11
A spiral fracture in a child should raise concern for child abuse.
- True
- False
Question 12
The treatment for galactosemia requires elimination of all ______-based products.
Fill in the blank
Question 13
What is the most common infectious cause of congenital hearing loss?
- Cytomegalovirus
- Rubella
- Toxoplasmosis
- Herpes simplex virus
Question 14
A newborn develops purulent conjunctivitis on day 3 of life. Which organism is most likely?
- Neisseria gonorrhoeae
- Chlamydia trachomatis
- Staphylococcus aureus
- Streptococcus pneumoniae
Question 15
What serious adverse event should be mentioned in informed consent for oral erythromycin in an infant?
- Pyloric stenosis
- Intussusception
- Reye syndrome
- Aplastic anemia
Question 16
A child with a recent sore throat now has scrotal swelling, abdominal pain, arthralgia, and a purpuric rash. What is the most likely mechanism?
- IgA and C3 deposition in small blood vessels
- IgG autoantibodies against desmoglein
- IgE-mediated mast cell degranulation
- Cytotoxic T-cell attack on sweat glands
Question 17
In severe Henoch-Schönlein purpura, treatment may include methylprednisolone or cyclophosphamide.
- True
- False
Question 18
What is the most dangerous complication of immune thrombocytopenic purpura (ITP) in a child with petechiae and a platelet count of 30,000/µL?
- Intracranial hemorrhage
- Hepatic failure
- Intussusception
- Myocarditis
Question 19
Which of the following is a non-fracture feature of osteogenesis imperfecta?
- Hearing loss
- Vitiligo
- Gingival hyperplasia
- Palmar erythema
Question 20
Spasmodic croup usually occurs in a child who is otherwise well and has intermittent stridor at night.
- True
- False
Question 21
Which two therapies are proven to improve symptoms of croup?
- Racemic epinephrine and corticosteroids
- Antibiotics and antihistamines
- Bronchodilators and mucolytics
- Antivirals and antipyretics
Question 22
A child has oral spots and a maculopapular rash on the hands, arms, feet, and legs after a sore throat. Which virus is specifically associated with viral myocarditis in this context?
- Coxsackie B virus
- Coxsackie A virus
- Respiratory syncytial virus
- Epstein-Barr virus
Question 23
In the classic diagnostic criteria for Kawasaki disease, fever must be present for at least ___ days.
Fill in the blank
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