An adult case of adrenoleukodystrophy with features of olivo-ponto-cerebellar atrophy: I. Clinical and pathological studies.
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.
D015065:17-Hydroxycorticosteroids / Q000652:urine; D015068:17-Ketosteroids / Q000652:urine; D000302:Adrenal Cortex / Q000473:pathology; D000326:Adrenoleukodystrophy / Q000175:diagnosis* / Q000473:pathology; D000328:Adult; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009849:Olivopontocerebellar Atrophies / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000473:pathology*
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids