Transmissible spongiform encephalopathy (Creutzfeldt-Jakob disease). Atypical clinical and pathological findings.

A middle-aged neurosurgeon had an 18-month illness characterized by abnormal sleep patterns, paresthesias, and necrotizing cutaneous lesions with vasculitis and signs of cerebral, brainstem, vestibulocerebellar, and progressive spinal cord involvement. Biopsy specimens of nerve and skin showed an acute vasculitis with endovascular cellular proliferation in the pattern of a Köhlmeier-Degos lesion and focal epidermal necrosis. Mental changes and cranial-nerve signs developed. Myoclonus occurred occasionally during sleep. Akinetic mutism ensued. At autopsy, major abnormalities were limited to the nervous system and skin. Spongiform encephalopathy typical of Creutzfeldt-Jakob disease was found with amyloid kuru plaques. A cribriform change distinct from the spongiform change was seen focally in the white matter. Scarred skin lesions and a healed, partially obliterative arteritis were noted. Inoculation of brain and lung into nonhuman primates resulted in a spongiform encephalopathy.