Spongy glio-neuronal dystrophy: a degenerative disease of the nervous system

A case of spongy glio-neuronal dystrophy is reported. The clinical features included mental and motor retardation in early infancy after a normal birth, and from the age of 4 years increasingly severe attacks of multifocal epilepsy, with prolonged postictal coma, myoclonic twitching and nystagmus, and at times hemiplegia for one to two weeks. Acidosis was present during the periods of postictal coma. Jaundice occurred several days before death at the age of 5 years. Neuropathological examination revealed severe spongy degeneration in the thalamus and dentate nucleus, and the cerebral cortex to a lesser degree, with sparing of the white matter. There was partial necrosis of liver cells and in some areas regenerative nodules. Possible aetiological factors linking the cerebral and hepatic pathology are discussed.