Von Recklinghausen病に合併した両側性聴神経鞘腫と大脳鎌髄膜腫—1家族発生例と文献的考察

A FAMILY OF VON RECKLINGHAUSEN'S DISEASE ASSOCIATED WITH BILATERAL ACOUSTIC NEURINOMAS AND FALX MENINGIOMAS

　抄録　両側性聴神経鞘腫および大脳鎌髄膜腫を合併した中枢型von Recklinghausen病の家族発生例を報告した。症例は父親（症例1），次男（症例2），長女（症例3）の2世代3人で，両側聴力障害で発症し，発症年齢は35歳，10歳，11歳であった。症例1は両側聴神経鞘腫摘出術後6年でCT scanにより大脳鎌髄膜腫と両側聴神経鞘腫の再発が認められ，大脳鎌髄膜腫摘出術を施行したが，嚥下性肺炎にて死亡した。症例2は左聴神経鞘腫摘出術後に右聴神経鞘腫および人脳鎌髄膜腫が発見されたが，手術は未施行である。症例3は両側聴神経鞘腫に加え，CT scanにて人脳鎌に造影効果を有す小腫瘤がみられ，髄膜腫が強く疑われた。手術未施行である。皮膚所見は比較的乏しく，皮下結節は症例1,2,3の順に12,11,1個であり，cafe-au-lait spotsは症例1の胸背部，症例3の頸背部に軽度認められたのみであった。両側聴神経鞘腫を合併したvon Recklinghausen　病の家族発生例は8家系の報告がみられ，さらに加え髄膜腫を合併した家系は5家系のみであった。中枢型von Recklinghausen病では皮膚病変が比較的乏しく，また二世代目では発症年齢の若年化がみられた。

A familial or inherited occurrence of von Reck-linghausen's disease has been reported hitherto, some of which were associated with intracranial tumors such as gliomas, neurinomas, meningiomas or others.

Authers report a family (case 1: father, case 2: son, case 3: daughter) of von Recklinghausen's disease associated with both bilateral acoustic neurinomas and falx meningioma.

Case 1. A 41 year-old male was admitted to our hospital with complaints of bilateral hearing disturbance, headache and loss of visual acuity. On admission, neurological examination revealed left papilledema, right cataracta, impairment of bilateral cranial nerves V, IX, X, bilateral deaf-ness, cerebellar ataxia, motor weakness of lower extremities and sensory disturbance of peripheral region of extremities. Twelve subcutaneous nodules were noted over the entire body and Cafe-au-lait spots were found slightly to be scattered over the chest and the back. Craniogram and vertebral angiography demonstrated bilateral CP angle tu-mors, and the diagnosis of bilateral acoustic neu-rinomas was made. Subtotal removal of bilateral tumors and Torkildsen's shunting were carried out. Histological diagnosis was neurinoma. Post-operative course was good. But 6 years later, he complained of gait disturbance. Computed tomo-graphy revealed falx meningioma in the frontal lobe and recurrence of bilateral acousic neurino-mas. So meningioma was totally removed. Eight months after surgery he died of aspiration pneu-monia aged 47.

Case 2. A 15 year-old male, son of case 1, wasadmitted with complaints of bilateral deafness, gait disturbance and visual disturbance. Neurologi-cal examination disclosed left papilledema, right congenital cataracta, impairment of bilateral cra-nial nerves V, IX, X, ataxic gait and sensory disturbance of right lower extremity. Eleven pain-less subcutaneous nodules were noted over the entire body. Computed tomography and vertebral angiography showed left CP angle tumor. Subtotal removal of tumors was carried out and histological diagnosis was neurinoma. Follow-up CT, ten months after admission, revealed right CP angle tumor and falx meningioma in the frontal region. However, operation was rejected.

Case 3. A 17 year-old female, daughter of case 1, who noticed right hearing disturbance at aged 11 and followed by bilateral hearing loss and headache, was admitted with complaints of bila-teral hearing disturbance. Neurological examina-tion showed right gaze nystagmus, bilateral hear-ing disturbances and truncal ataxia. Cafe-au-lait spots were also scattered over the neck and the back. Computed tomography revealed bilateral CP angle tumors and contrast enhanced small mass on the falx in the frontal region which suspected meningioma. Operation was not permitted.

On previous literature, the familial cases of Recklinghausen's disease associated with bilateral acoustic neurinomas were 8 family trees, and, especially, the familial cases emerging both bila-teral acoustic neurinomas and meningioma were only five.