A Case of Galactosaemia with the Pathological and Neuropathological Findings

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Abstract
A galactosaemic infant, with severe jaundice, hepatomegaly and lenticular opacities appearing at 3 weeks, recovered after the withdrawal of most lactose from the diet. The lenses cleared and remained clear. Mental retardation was, however, persistent. The child died at 8 years and the main neuropathological findings consisted of slight microencephaly with pronounced fibrous gliosis of the white matter. The cerebellum showed marked loss of Purkinje cells and less conspicuous loss of the granular layer. Most of the larger nerve cells throughout the central nervous system contained slight excess of cytoplasmic lipofuscin. The only noteworthy somatic changes were slight dilatation of the renal convoluted tubules of loops of Henle, and glycogenosis of the liver and kidney.