Type II neurofibromatosis presenting as quadriceps atrophy
Type II neurofibromatosis presenting as quadriceps atrophy
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DOI：
10.1007/bf02427564
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发表时间：
1998-04-01
期刊：
影响因子：
--
通讯作者：
Bussone, G
中科院分区：
文献类型：
--
作者：
Grazzi, L;Chiapparini, L;Bussone, G
一位26岁的年轻女性因左股四头肌萎缩一年多而就诊。磁振造影显示在腰丛有一个很大的病灶，可能是神经鞘瘤。脑部磁振造影显示右侧第八脑神经有一处病变，也与神经鞘瘤相符。在进一步询问患者时，得知其母亲曾因听神经瘤接受过两次手术。II型神经纤维瘤病的诊断是根据临床表现，神经影像学表现和家族史。这种情况是不寻常的缺乏中枢神经系统（CNS）的症状。与神经鞘瘤相符的神经根性病变应立即进行脑部MRI检查。定期检查有风险的家庭成员和早期诊断可以降低与这种情况相关的高死亡率。
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.