TYPE-II NEUROFIBROMATOSIS PRESENTING AS QUADRICEPS ATROPHY

A young woman aged 26 years presented with atrophy of the left quadric eps progressing over one year. Magnetic resonance imaging (MRI) showed a large lesion of the lumbar plexus compatible with neurinoma. Cerebr al MRI revealed a lesion in the right eighth cranial nerve also compat ible with neurinoma. On further questioning of the patient, it was lea rned that her mother had undergone surgery twice for acoustic neurinom a. Type II neurofibromatosis was diagnosed from the basis of clinical picture, neuroimaging findings and family history. This case is unusua l for the lack of central nervous system (CNS) symptoms. Expansive rad icular lesions compatible with neurinoma should prompt cerebral MRI. R egular examination of family members at risk and early diagnosis can d ecrease the high mortality associated with this condition.