External eye muscle palsies and atypical retinitis pigmentosa in an adult with cystic fibrosis*

Abstract

A 30-year-old male with cystic fibrosis and a nine-year history of drooping eyelids, ataxia and night-blindness was studied. Neurological examination disclosed external eye muscle palsies, atypical retinitis pigmentosa, ataxia and diminished vibratory and touch perception in the lower extremities. Activity of lysosomal a-L-Fucosidase in leucocytes and cultured fibroblasts was in the heterozygote range. Sural nerve biopsy showed slight signs of neuropathy but no axonal swellings. At autopsy axonal swellings were found in nucleus gracilis and nucleus cuneatus. It is suggested that the neurological signs and the neuropathological findings are compatible with vitamin E deficiency of long duration.