Index of Suspicion Case Report 16 y/o Boy with X-Linked Adrenoleukodystrophy Presented as Degenerative CNS Disorder.

摘要

A 16-year-old boy comes to the neurologist because of new-onset seizures. He had two generalized tonic seizures one week apart. Since starting carbamazepine, he has had no further events. The boy denies recent illness or fever, and use of medications, alcohol, tobacco, or illicit substances. His mother describes problems with memory and activities of daily living. Gestation, delivery, and early development were uneventful. He requires special education for attention-deficit/hyperactivity disorder (ADHD) and slowly worsening learning difficulties. Cognitive testing at age 13 showed a full-scale intelligence quotient (IQ) of 80. On physical examination, the boy is of average height, but thin with a body mass index of 17.5 (5th percentile). He has large ears, high-arched palate, normal-sized testes, and no pertinent skin findings. He has mild generalized hypotonia, slightly decreased sensation to vibration and proprioception in his legs, and mild ataxia on tests of coordination and gait. A urine drug screen, serum chemistry panel, and complete blood count are normal. Lumbar puncture reveals a slightly elevated cerebrospinal fluid (CSF) protein of 51 mg/dL (normal, 15 to 45 mg/dL). Computed tomography (CT) of the brain shows hypoattenuation of the white matter and mild dilation of the posterior-lateral ventricles. Magnetic resonance imaging (MRI) with contrast shows moderately extensive symmetric deep white matter disease, mostly posteriorly, without mass effect or contrast enhancement. Electroencephalography (EEG) is normal. Neuropsychological testing reveals dementia and a 28-point drop in full-scale IQ from 80 to 52 over the past 3 years. A blood test leads to the correct diagnosis.