Cerebellar hypoplasia in Werdnig-Hoffmann disease.
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.
D001933:Brain Stem / Q000002:abnormalities* / Q000473:pathology; D002525:Cerebellar Cortex / Q000473:pathology; D002526:Cerebellar Diseases / Q000151:congenital*; D002531:Cerebellum / Q000196:embryology / Q000473:pathology; D003711:Demyelinating Diseases; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000235:genetics*; D013118:Spinal Cord Diseases / Q000151:congenital*; D013577:Syndrome