Pediatric Neurology
QUESTIONS
1. A 5-year-old boy presents to the clinic with a history of epilepsy, cognitive regression, and progressive blindness. A skin biopsy is done and demonstrates intracellular accumulation that is yellow-green in color and is fluorescent. How did the boy get this disease?
A. It is X-linked.
B. It is autosomal dominant.
C. It is autosomal recessive.
D. He has Trisomy 21.
E. None of the above
View Answer
1. Answer: C. This is an autosomal recessive disorder. The patient has neuronal ceroid lipofuscinoses.
2. A 9-year-old boy presents to the clinic with a history of staring spells about 20 times per day over the past 2 months. There is no family history of seizure. An electroencephalography is performed and demonstrates a 3-Hz spike and wave during hyperventilation. Which of the following is the best next step?
A. Order a magnetic resonance imaging brain scan.
B. Initiate phenytoin.
C. Initiate ethosuximide.
D. Report the family to social services.
E. There is nothing to do.
View Answer
2. Answer: C. The patient has absence seizures of childhood. The first-line agent for monotherapy is ethosuximide. This is a generalized epilepsy.
3. A 4-year-old girl presents with ataxia and skin lesions. She is diagnosed with ataxia-telangiectasia. What should the parents look out for?
A. Leukemia
B. Renal cell carcinoma
C. Death before age 20
D. Pontine atrophy
E. None of the above
View Answer
3. Answer: C. Patients with ataxia-telangiectasia have an increased risk of death by age 20. Also, these patients are at increased risk of cerebellar degeneration, B-cell lymphoma, and hypertrichosis.
4. A mother brings her 1-week-old daughter to your clinic and states her daughter’s face is “crooked.” As you evaluate the infant, you do not see any abnormalities, but she then starts crying and develops a right-sided facial droop. What is the best next step?
A. Lumbar puncture
B. Vitamin B12
C. Echocardiogram
D. Bone scan
E. None of the above
View Answer
4. Answer: C. The patient has craniofacial syndrome, which is often accompanied by cardiac abnormalities.
5. Patients with craniofacial syndrome have an abnormality on what chromosome?
A. 1
B. 12
C. 16
D. 22
E. 2
6. Which of the following is not a cardinal feature of neuronal ceroid lipofuscinosis?
A. Motor regression
B. Progressive blindness
C. Epilepsy
D. Ataxia
E. None of the above
View Answer
6. Answer: D. Ataxia is not part of neuronal ceroid lipofuscinosis. Along with the others, cognitive regression and intracellular accumulation of autofluorescent material are cardinal features.
7. A 12-year-old boy is found to have a Chiari malformation type II. Which of the following does he also have?
A. Arachnoid cyst
B. Intracranial hypotension
C. Lumbar meningomyelocele
D. Hypoplastic cerebellum
E. All of the above
View Answer
7. Answer: C. There are four types of Chiari malformations. Type II patients typically have the lumbar meningomyelocele. Syringomyelia, syringobulbia, and hydrocephalus are often seen in the first three types of Chiari malformations. The classification of Chiari type IV is not typically used anymore. Patients present with cerebellar hypoplasia and no protrusion of the tonsils through the foramen magnum.
8. During gestation, at what week does gyri formation occur?
A. 6
B. 14
C. 24
D. 36
E. None of the above
9. A father brings his son in for a check-up. The child is able to wave hello, plays peekaboo, and can crawl and sit without support. He has been developing appropriately. What age must he at least be?
A. 8 weeks
B. 8 months
C. 12 months
D. 24 months
E. None of the above
View Answer
9. Answer: B. At 8 months of age, these are the appropriate milestones that should be occurring. At 12 months, he should be walking.
10. A term infant is found hypotonic and moderately weak at birth. Her mother has a history of myasthenia gravis. What percentage of infants born to mothers with myasthenia gravis will develop neonatal myasthenia?
A. 1%
B. 15%
C. 50%
D. 99%
E. None of the above
View Answer
10. Answer: B. About 15% of infants born to mothers with myasthenia gravis develop neonatal myasthenia.
11. In the infant in the previous question, what is the next best step?
A. Administer treatment with oral medication.
B. Supportive care
C. Plasma exchange
D. Intravenous steroids
E. None of the above
View Answer
11. Answer: B. Neonatal myasthenia is typically self-limiting, and symptoms usually resolve without any specific treatment or intervention.
12. A neonate presents with a seizure. On lab testing, he is found to have low blood glucose. Which of the following would not be the cause of the lab abnormality?
A. Glycogen storage disease
B. Fructose 1,6 diphosphatase deficiency
C. Maple syrup urine disease
D. Citrullinemia
E. None of the above
View Answer
12. Answer: D. Citrullinemia would lead to elevated blood ammonia. The rest are all possible causes of low blood glucose.
13. A neonate is born comatose and with lower cranial nerve damage. The most likely etiology is neonatal asphyxia. Which of the following would help support this diagnosis?
A. Enterocolitis
B. Normal hepatic enzymes
C. No evidence of irregular rhythm
D. Usually no meconium is passed
E. None of the above
View Answer
13. Answer: A. Enterocolitis, along with lactic acidosis, elevated hepatic enzymes, renal failure, and fatal myocardial damage are usually present in patients with severe HIE.
Related posts:
Stay updated, free articles. Join our Telegram channel
Full access? Get Clinical Tree
