E96

BRAIN - Leucodystrophy

Description
This specimen shows two pieces of cerebellum; the grey matter appears intact but the white matter is clearly abnormal, being pale in colour, and apparently collapsed. The subcortical U fibres appear intact.
History
This child, who died at the age of two years, had suffered a progressive neurological degenerative condition characterised by a gross ataxia and a lack of balance to such an extent that she became upset when not adequately supported; she also showed a spastic quadriplegia affecting her left side more than her right and her arms more than her legs. Histologically the lesion was classified as sudanophilic leucodystrophy; another child in the family appears to be affected in a similar manner.