Neonatal-onset adrenoleukodystrophy in a girl

A 4-year 11-month-old girl developed cerebral degeneration with onset in the neonatal period. Postmortem examination showed gross, microscopic, ultrastructural, and biochemical changes identical to those associated with adrenoleukodystrophy (ALD), a sex-linked disorder of boys beginning in the first decade of life. Cytoplasmic inclusions ultrastructurally identical to those in brains and adrenal glands of ALD patients were present not only in this girl's adrenal glands and brain but also in reticuloendothelial cells of the liver, lymph node, spleen, thymus, and hepatic lysosomes. Thin-layer and gas-liquid chromatographic analysis of cerebral tissues demonstrated abnormal long-chain fatty acids in the cholesterol ester fraction, identical to those present in affected tissues of males with ALD. The documentation of abnormal long-chain fatty acids in cerebral tissues of a female patient supports the concept that infantile-onset ALD is a clinically and pathologically distinctive entity characterized by prominent visceral storage abnormalities and occurrence in both sexes. These findings also suggest that ALD and related entities are either phenotypic variants of a specific enzyme deficiency or separate disease resulting from different mutations in a common metabolic pathway.