A case of adrenoleukodystrophy in a girl. Genetic considerations

We report the case of a girl who developed leukoencephalopathy and adrenal atrophy and died at 3 years of age. Histologically, demyelination, gliosis, perivascular lymphocytic cuffing and sudanophilia were present in the brain. The adrenal cortex was atrophic. Ultrastructurally, there were numerous cytoplasmic inclusions in brain macrophages, consisting of two leaflets separated by an intervening space of variable low electron density. Brain tissue cholesterol esters contained a high proportion of long chain fatty acids. The findings are discussed and compared with those in the literature. Emphasis is placed on the fact that the disease occurred in a girl in apparent contradiction to the commonly accepted X-linked hereditary transmission of adrenoleukodystrophy. Some possible genetic explanations for our case are put forward.