Leber's disease with spastic paraplegia and peripheral neuropathy. Case report with nerve biopsy study.
A 43-year-old patient with familial Leber's optic atrophy suffered from spastic paraplegia. Physical examination disclosed cerebellar and pyramidal signs and signs of peripheral neuropathy. On sural nerve biopsy, there were few large myelinated fibers, signs of axonal degeneration and thin myelin sheets. This case suggests an overlap syndrome with central and peripheral nervous system features of Leber's disease, spinocerebellar degeneration and peroneal muscular atrophy.
D000328:Adult; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000150:complications; D009896:Optic Atrophy / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010264:Paraplegia / Q000150:complications* / Q000473:pathology; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000473:pathology; D013497:Sural Nerve / Q000473:pathology