ADULT NEURONAL CEROID-LIPOFUSCINOSIS WITH CLINICAL FINDINGS CONSISTENT WITH A BUTTERFLY GLIOMA

The authors report a case of neuronal ceroid lipofuscinosis (Kufs' dis ease! confirmed by stereotactically obtained brain biopsy findings and initially diagnosed as a butterfly glioma. The presenting symptoms in the 64-year-old patient were mental alterations with progressive deme ntia, followed by muscular atrophy and myoclonia with distal preponder ance. The mild initial disturbances of coordination increased, and the patient developed a markedly ataxic gait. Computerized tomography (CT ) scanning and magnetic resonance imaging revealed generalized cerebra l atrophy and a bifrontal space-occupying lesion involving the callosu m. The original ''clearcut'' diagnosis of glioblastoma multiforme, bas ed on CT scans, was unexpectedly disproved by examination of stereotac tically obtained brain biopsy specimens, which revealed a neuronal cer oid lipofuscinosis (Kufs' disease). To the authors' knowledge, this is the first report of a ease presenting with both diffuse brain atrophy and localized accumulation of neuronal lipofuscin, mimicking a mass l esion on radiological studies.