An autopsy case of atypical adrenoleukomyeloneuropathy in childhood

Adrenoleukomyeloneuropathy (ALMN) usually occurs in adulthood, it being ext remely rare in childhood. We reported a quite atypical clinical case of ALM N as a variant of adrenoleukodystrophy (ALD). The onset was at 5 years 7 mo nths and ataxia was the major symptom. His condition progressed rapidly to a vegetative state within 1 year. At the age of 11 years and 11 months he d ied of pneumonia and an autopsy was performed. We herein reported the neuro pathological findings in this rare case. The autopsy revealed marked atroph y with diffuse demyelination and astrogliosis throughout the cerebrum, cere bellum and brainstem. Massive degeneration of the pyramidal tracts and loss Of neurons were also seen in the spinal cord. The adrenal cortex showed ma rked atrophy with a striated cytoplasm in ballooned cells. These findings i nclude pathological characteristics of both ALD and adrenomyeloneuropathy ( AMN), suggesting ALMN. However, diffuse demyelination with gliosis in the c erebrum and cerebellum is quite atypical for ALMN. They might explain his a typical clinical course, especially the early onset of the disease with ata xia and rapid deterioration. (C) 2000 Elsevier Science B.V. All rights rese rved.