Type II neurofibromatosis presenting as quadriceps atrophy.
A young woman aged 26 years presented with atrophy of the left quadriceps progressing over one year. Magnetic resonance imaging (MRI) showed a large lesion of the lumbar plexus compatible with neurinoma. Cerebral MRI revealed a lesion in the right eighth cranial nerve also compatible with neurinoma. On further questioning of the patient, it was learned that her mother had undergone surgery twice for acoustic neurinoma. Type II neurofibromatosis was diagnosed from the basis of clinical picture, neuroimaging findings and family history. This case is unusual for the lack of central nervous system (CNS) symptoms. Expansive radicular lesions compatible with neurinoma should prompt cerebral MRI. Regular examination of family members at risk and early diagnosis can decrease the high mortality associated with this condition.
Neurological Institute C. Besta, Milan, Italy.
L
L
Grazzi
L
L
Chiapparini
E A
EA
Parati
S
S
Giombini
D
D
D'Amico
M
M
Leone
G
G
Bussone
D000328:Adult; D001284:Atrophy; D003390:Cranial Nerve Neoplasms / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008160:Lumbosacral Plexus / Q000473:pathology; D008279:Magnetic Resonance Imaging; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000473:pathology*; D009442:Neurilemmoma / Q000473:pathology; D016518:Neurofibromatosis 2 / Q000473:pathology*; D000159:Vestibulocochlear Nerve / Q000473:pathology