An Autopsy Case of Werdnig-Hoffmann's Disease

An autopsy case of Werding-Hoffman's disease which occurred in sibling was described. The clinical course was characterized with inactivity at birth, fraccid extremities, paradoxical respiratory movements, and absence of tendeon reflex. Histological examination revealed (1) denrvation atrophy of skeletal muscles without involvement of diagphragm and (2) degenerative changes of anterior horn cells of the spinal cord. An additional change which attracted attention was a vacuolar degneration of the cytoplasm of some anterior horn cells. A relationship with the unusual infantie motor neurone disease reported by Kohn was also discussed.