Chapter 3. Pediatrics
A 4-month-old infant presents with a 4-week history of increasingly frequent abnormal movements. The attacks, which occur in clusters, consist of head nodding and rapid flexion of all extremities. Following the episodes, the infant typically cries briefly. As part of the diagnostic workup, Wood's lamp examination reveals numerous hypopigmented macules. Treatment with which of the following antiepileptics is specifically recommended for this patient's constellation of diseases?
(B) The infant presents with the classic features of infantile spasms. Infantile spasms typically develop between 3 and 8 months of age. Infants typically have numerous clusters of attacks described as head nodding and flexion/extension of all extremities or brief “lightning-like” body contractions. Most infantile spasms are symptomatic. The most common underlying genetic disorder associated with infantile spasms is tuberous sclerosis, with hypopigmented macules (ash leaf spots) as classic findings. Vigabatrin is specifically recommended for the treatment of infantile spasms in the setting of tuberous sclerosis. (Elterman, 1416–1421; Hancock, 71–74; Menkes, 877–880; Rowland, 929)
Elterman RD, Shield WD, Mansfield A, Nakagawa J. Randomized trial of vigabatrin in patients with infantile spasms. Neurology. 2001;57:1416–1421.
Hancock E. Topical review: vigabatrin in the treatment of infantile spasms in tuberous sclerosis: literature review. J Child Neurol, 1999;14:71–74.
Menkes JH, Sarnat HB, Maria BL. Child Neurology. 7th ed. New York, NY: Lippincott Williams & Wilkins; 2006.
Rowland LP, Pedley TA, Merritt HH. Merritt's Neurology. 12th ed. New York, NY: Lippincott Williams & Wilkins, 2010.
An 18-month-old boy presents with progressive weakness. On further history, the mother recalls that the infant had abnormal roving eye movements starting at around 1–2 months of age that largely resolved by the time he was 16 months old. Examination now reveals slight spasticity in all extremities. Additionally, the child is found to have poor head control for his age. MRI of the brain reveals symmetric diffuse T2 hyperintensities in the white matter of both hemispheres with small areas of normal white matter. This child's disorder is caused by a mutation in which of the following genes?
(A) The infant in this vignette has Pelizaeus–Merzbacher disease (PMD), a hypomyelinating leukoencephalopathy. PMD can be distinguished from other leukodystrophies by the ...