神经鞘瘤病1例

A case report of schwannomatosis

报告1例神经鞘瘤病。患者男,15岁,出生时即发病。主要表现为全身皮肤相继出现结节、肿块,并逐渐增大。体格检查发现右耳听力丧失,伸舌右偏。颅脑CT检查示右侧颅中窝有一占位性病变。皮肤组织病理检查为典型的神经鞘瘤。免疫组化染色示瘤细胞肌动蛋白actin阴性、S-100蛋白阳性、波形蛋白vimentin阳性。根据患者皮肤多发性神经鞘瘤伴中枢神经系统肿瘤、神经系统缺陷,诊断为神经鞘瘤病。

The patient was a 15-year-old boy who fell ill at his birth. The clinical manifestation of eruption was some nodule and plaque throughout body. His right audile was lost and tongue was deviated to right. CT showed that there was a space-occupying lesion in right middle cranial fossa. Histological examination of eruption showed typical features of neurolemmoma with spindle cells, Verocay bodies and no axons within the tumor. The tumor cell was identified positive with S-100?vimentin but negative with actin by immunohistochemistry. Combining multiple cutaneous schwannomas, central nervous system tumors and neurologic deficits, the patient was diagnosed as schwannomatosis.