Von Recklinghausen病に合併して両側聴神経鞘腫，大脳鎌ならびに脊髄の髄膜腫，mononeuritis multiplexのみられる1家系

A FAMILY OF VON RECKLINGHAUSEN'S NEUROFIBROMATOSIS COMPLICATED BY MONONEURITIS MULTIPLEX, BILATERAL ACOUSTIC NEURINOMAS, AND FALX AND SPINAL MENINGIOMAS

　抄録　Von Recklinghausen病に合併して異種多発性脳腫瘍のみられる1家系の報告である。症例1（発端者）は，51歳主婦。頭痛，両聴神経障害，左顔面神経麻痺のほかに脳神経障害として右視力低下，右動眼神経麻痺，右舌咽迷走神経麻痺，右舌下神経麻痺を認める。左尺骨神経麻痺と右総腓骨神経麻痺は，誘発筋電図と針電極筋電図で碓認された。感覚神経誘発電位はいずれの神経にも得られなかった。X線学的には，両内耳道拡大，脳シンチと脳血管造影で大脳鎌腫瘍，脊髄腔造影で硬膜内髄外腫瘍が認められた。手術所見は，大脳鎌腫瘍が髄膜腫，小脳橋角腫瘍が神経鞘腫であった。症例2は，長男で12歳。痙性対麻痺を呈し，硬膜外脊髄腫瘍の組織像は髄膜腫であった。症例3は，三女で24歳。母親と同様に大脳鎌髄膜腫，両聴神経鞘腫，脊髄腫瘍を認めた。なお，本家系では皮膚病変はいずれも軽微であった。本症に異種多発性脳腫瘍を合併して家族性のものの報告は5家系目であり，本邦では初である。また，発端者のようなmononeuro—pathyやsubclinical polyneuropathyの合併は文献的にもvon Recklinghausen病の中枢型にのみみられ通常の夥しい皮膚病変を呈する末梢型にはみられない。

A family of von Recklinghausen's disease com-plicated by multiple diverse primary brain tumors was reported.

Case 1. The proband, born in 1923, was admit-ted to the Nagasaki University Hospital on March 11, 1974, for evaluation of headache and hearing loss. Neurological examination disclosed :(1) decreased visual acuity on the right :(2) bilate-ral choked discs ;(3) anisocoria, right pupil wi-der than left ;(4) right blepharoptosis ;(5) artificially fixed right eye ;(6) right facial palsy ;(7) markedly impaired hearing with negative vestibular responses to caloric test ;(8) paralysis of the right soft palate and vocal cord ;(9) atrophy of the right side of the tongue ;(10) right claw hand with positive Froment's sign ; (11) left drop foot ;(12) loss of deep reflexes on the left arm and legs ;(13) positive Babinski on the right. Nerve conduction studies revealed failure to evoke muscle action potential in response to electric nerve stimulation on the left ulnar and right superficial peroneal nerves. Needle electro-myography showed no motor unit potentials in the left first dorsal interosseus and right anterior tibial muscles. Sensory nerve action potentials could not be evoked on any nerves tested. X-ray films showed enlargement of the internal auditory pas-sages, falx tumor on brain scan and carotid angio-graphy, and spinal tumor on myelography. At cra-niotomy, a 7×5.5 ×4cm falx meningioma was re-moved. At suboccipital craniotomy performed five weeks later, right acoustic neurinoma measuring 1.5 cm in diameter was removed.

Case 2. This relative, born in 1945, was the son of the proband. A spinal meningioma at C7-T1 was removed in 1957. However, he could not walk after operation and died of pneumonia two years later.

Case 3. This relative, born in 1948, was the daughter of the proband. A falx meningioma was removed in 1972. Bilateral acoustic and spinal tumors were found and right acoustic neurinoma was removed in 1974.

Every member described above showed a few café-au-lait spots and subcutaneous nodules in agreement with central neurofibromatosis. Familial cases with multiple diverse primary brain tumors in von Recklinghausen's disease are relatively rare, and this is the first case report in Japan.An assumption can be made that mononeuropathy and subclinical polyneuropathy occur only in central type, not in peripheral type, of von Reck-linghausen's neurofibromatosis.