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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Alexander Disease | 4A0 Case 4 History
Case 4 History ---- The patient was a 4.5 year old child who was born in August 1995 by C section at 41 weeks EGA to a 16 year old mother who experienced no complications during pregnancy. At two months of age the infant was readmitted for a seizure disorder and hyperactive startle reflex. Workup at 3 months of age demonstrated a leukodystrophy with multifocal partial and myoclonic seizures. Extensive workup at that time showed no metabolic abnormalities; beta galactocerebrosidase test was normal (r/o Krabbe Dz). Serum very long chain fatty acids were also negative (r/o adrenoleukodystrophy). An MRI in November 1995 showed deformity of both frontal horns and moderate dilation of both lateral horns. The corpus callosum was markedly thinned with bilateral, symmetric decrease in the white matter of both frontal lobes, occipital lobes and posterior parietal lobes. The periventricular brain parenchyma was abnormal, especially in the occipital lobes with thinning of the occipital cortex. The pattern suggested leukodystrophy, intrauterine infection, metabolic, genetic or demyelinating processes. A CT showed no calcifications. Seizures reached 10-20 per day. She had lost developmental skills, developed visual loss and difficulty with swallowing. An Arylsulfatase A test (r/o Metachromatic leukodystrophy) was normal and N-acetylaspartic acid was also normal (r/o Canavan disease). The patient’s condition was most consistent with Alexander disease (infantile form). It was thought that Pelizaeus-Merzbacher disease generally has a more slowly progressive course; and Cockayne disease usually shows discontinuous myelin loss in the presence of calcifications, microcephaly, and premature aging. A skin biopsy for electron microscopy showed no pathologic abnormalities (no inclusions or abnormal lysosomes). She was hospitalized multiple other times for muscle spasms, irritability, influenza A, weight loss, electrolyte imbalance, unresponsiveness, hypothermia and hypoglycemia. Radiologic studies showed progression of myelin loss with extension to the brainstem. Comfort measures were instituted and the baby died soon thereafter.
