Cerebellar hypoplasia in Werdnig-Hoffmann disease

Abstract

The case of an infant with Werding-Hoffmann disease, who died at the age of 4 1/2 days, is reported. At autopsy there was severe cerebellar hypoplasia, associated with degenerative changes in the brain-stem nuclei. This case supports the concept that cerebellar hypoplasia may develop as a manifestation of the neuronal abiotrophy of Werdnig-Hoffmann disease. A similarity has been noted between the cerebellar lesion found in the child reported here and that produced by viral infection in experimental animals.