17-ketosteroids and Adrenoleukodystrophy

A male patient was suspected as olivo-ponto-cerebellar atrophy from the clinical and computed tomographic features at 34 years of age. Afterwards, his dysarthria and limb ataxia were slowly and steadily worsened. He was finally bed-ridden and unresponsive, and died of hyperpyrexia and general wasting at 37 years of age. It was noted that laboratory investigation gave lower values of urinary 17-ketosteroids and 17-hydroxycorticosteroids in comparison with those of normal subjects. Pathological investigation in autopsy showed that he had pathological features consistent with adrenoleukodystrophy accompanying the olivo-ponto-cerebellar atrophy; diffuse demyelination in the cerebrocerebellear white matter, distorted architecture and cytoplasmic striations in the adrenal cortex, and in addition, a pseudosystemic degeneration of the olivo-ponto-cerebellar system and subcortical gray matter.

Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Cortex; Adrenoleukodystrophy; Adult; Brain; Diagnosis, Differential; Diffuse Cerebral Sclerosis of Schilder; Humans; Male; Microscopy, Electron; Olivopontocerebellar Atrophies; Spinal Cord; Spinocerebellar Degenerations