Histopathological findings in adrenoleukodystrophy autopsy report of a boy aged 11 years and 11 months.

Abstract

Clinical and pathohistological findings of a boy who died of adrenoleukodystrophy at the age of 11 years and 11 months are reported. Special features are the advanced diffuse demyelination of cerebral and cerebellar white matter as well as the "burnt-out" stage of myelin breakdown with fibrous gliosis. The leukodystrophic process is accompanied by secondary loss of axons with marked atrophy of grey matter in the whole of the brain stem, dentates and cerebellar cortex of the Purkinje cell type. The degeneration of nerve fibres is considered as a complex mechanism, which is not restricted to the Wallerian type. -- Only free cholesterol was shown by histochemical tests in the preserved myelin sheaths. Free and esterified cholesterol was found in the adrenal cortical cells. The lack of detectable cholesteryl esters in the sparse sudanophilic macrophages was unexpected. This finding may be attributed to the sensitivity of the histochemical method or to interference by achromogenic 7-ketocholesterol.