Leukodystrophy Quiz: Ace Your Exams
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A 4-year-old boy is brought to the emergency room with a single seizure-like episode. One parent states the patient started contracting his upper and lower extremities for 30 seconds. His parents state he has had several behavioral complaints at preschool over the past few months. He was able to walk without support until several weeks ago, when they noticed that he had an unsteady gait while walking. Temperature is 37.5°C (99.5°F), pulse is 124/min and blood pressure is 110/85 mmHg. The patient is awake but lethargic. Neurological examination reveals symmetric peripheral neuropathy with diminished sensation to pain and absent deep tendon reflexes. Fundoscopy reveals optic atrophy. Motor examination reveals hypotonia and extensor plantar responses bilaterally. Abdominal examination is unremarkable. He says one and two-word phrases but is unable to speak in complete sentences. MRI of the brain reveals hyperintensities in the periventricular regions of the brain matter. Which of the following is the most likely diagnosis?
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