Abstract
Presenting an autopsy case of globoid cell leucodystrophy, the diffuse cerebral sclerosis is discussed from clinical and laboratory aspects. A boy aged 3 years and 5 months at the time of death was the first child from parents with consanguinous marriage. He was born uncomplicatedly after fulltime normal pregnancy with birth weight of 2, 500gm. Hyperirritability developed and his mental and motor function began to regress at the age of 10 months. At the age of 1 year 1 month, opisthotonus appeared with hypertonicity of muscle and increased deep reflexes. Since 1 year and 7 months of age, generalized tonic convulsions developed, and decerebrated rigidity appeared before the age of 2. In advanced stage, optic atrophy and frequent hyperpyretic episodes were observed. However, muscle hypotonia or hyporeflexia were not noticed.
