Leucoencephalopathy with neuroaxonal spheroids (LENAS) presenting as the cerebellar subtype of multiple system atrophy

Abstract

Leucoencephalopathy with neuroaxonal spheroids (LENAS) is a rare disease of cerebral and cerebellar white matter. LENAS usually presents as a disorder of cognition and behaviour, or with gait dysfunction and ataxia. This report describes a patient who had a 14 year course of progressive neurological decline consistent with a clinical diagnosis of probable multiple system atrophy, with prominent cerebellar dysfunction and dysautonomia. Formal autonomic laboratory testing was consistent with global autonomic dysfunction of central origin. However, magnetic resonance imaging showed extensive white matter signal abnormalities, in addition to moderate cerebral and cerebellar atrophy. On postmortem microscopic examination, there were numerous axonal spheroids throughout the white matter of both regions. This case of LENAS presented unique clinical characteristics, and typical pathological findings.