Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy

Clinical, biochemical and morphological findings in a 16-month-old infant girl with pseudo-neonatal adrenoleukodystrophy are reported. The parents were first cousins and the baby was born at term, small for gestational age. The neonatal period was characterized by convulsions resistant to treatment, generalized, severe muscle hypotonus, feeding difficulties and poor weight gain. Developmentally she remained at a neonatal level. A CT-scan showed low density of cerebral white matter and MR examination white matter changes, a thin corpus callosum, cerebellar malformation and dorsal displacement of the brainstem. There was an accumulation of very long chain fatty acids (VLCFA) in serum lipids and cultured skin fibroblasts but plasmalogen and phytanic acid levels were normal. A liver biopsy revealed enlarged peroxisomes staining for catalase. Three similar cases have been reported previously; in two of these there was a deficiency of acyl-CoA oxidase. MR evidence of leukodystrophy combined with gross cerebral and cerebellar morphologic changes have not been reported earlier.