Abstract

Progressive left facial hemiatrophy began in a boy at the age of 5 years. Over the next 20 years, he developed wasting of the left shoulder and arm muscles, ptosis of the eyelids, ophthalmoplegia, convergence nystagmus, pupillary dilatation, hemiparesis, seizures, and dysarthria. A pneumoencephalogram showed cerebellar hemiatrophy. Biopsy of the cerebellum revealed loss of and degenerative changes in Purkinje cells. A deltoid muscle biopsy studied by histochemical and enzymatic procedures was normal. There are many neurological and ophthalmological complications of progressive facial hemiatrophy. Seizures, ophthalmoparesis, and pupillary abnormalities are the most common. The aetiology and pathogenesis of the disease are unknown. The possibility that this is a `slow virus' disease is suggested.