Cerebellar Hypoplasia in Werdnig-Hoffmann Disease

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Abstract
Neuropathological examination of a 6-month-old infant revealed the usual features of Werdnig-Hoffmann disease in the spinal cord and brain stem. There was widespread degeneration of nerve cells in the thalami, and symmetrical pallido-Luysial atrophy. The cerebellum was hypoplastic and in the ventral parts of the lateral lobes the convolutions were stunted in development and showed atrophic changes. Severe degeneration had taken place in both dentate nuclei and was accompanied by dense fibrillary gliosis and an almost complete loss of myelinated fibres in the hila. Reference is made to other forms of infantile encephalopathy in which cerebellar hypoplasia has been found in association with progressive neuronal degeneration elsewhere in the brain. The findings in the present case support the theory that, in certain instances, prenatal malformation and abiotrophy are expressions of the same genetic abnormality.