脳幹部腫瘍を合併したMaffucci症候群の1例

A CASE OF MAFFUCCI'S SYNDROME WITH BRAIN-STEM TUMOR

　抄録　脳幹部腫瘍を合併したMaffucci症候群の1例を報告した。症例は17歳，男性。生下時より左上下肢の形成不全を認めていた。約6ヵ月の経過で複視，四肢麻痺が徐々に増悪し入院した。多発性脳神経麻痺（左外転，両側顔面神経），軽度の痙性四肢麻痺を認めた。また左手指，足趾基節部には骨様硬の腫瘤，左手掌には青色調の皮下腫瘤を認めた。生検では前者は内軟骨腫，後者は海綿状血管腫であり，Maffucci症候群と診断された。頭部CT scan, magnetic resonance imaging （MRI）では脳幹部の著明な腫脹を認め，脳幹部神経膠腫が疑われた。66Gyの放射線照射および化学療法により神経症状は軽快した。治療後のMRIでは脳幹部腫脹の軽減を認めた。Maffucci症候群は全身に種々の腫瘍を合併することが知られており，頭蓋内病変もまれではない。しかし脳幹部病変を有する報告は渉猟した限り見つからず，非常にまれな症例と思われた。

A case of Maffucci's syndrome with brain-stem tumor is reported. A 17-year-old man with a history of diplopia and unsteady gait for 5 months was admitted to our hospital on May 6, 1987. Neurological findings on admission disclosed left VIth cranial nerve and bilateral 711th nerve palsies and mild quadriplegia with a bilateral Babinski sign. His left limbs were deformed and dispro-portionally shortened since birth, and there were multiple enchond romata of the phalanges. Several blueish subcutaneous soft tumors were present on his left hand. Histological examination of a skin lesion confirmed the cavernous hemangioma. A CT scan showed diffuse symmetrical low density area in the brain-stem. No contrast enhancement was noted. Sagittal magnetic resonance imaging (MRI) demonstrated swelling of the brain stem especially in the pons and medulla oblongata. Left vertebral angiogram showed an avascular mass in the region of brain stem. Brain-stem glioma beingstrongly suspected, both radiation therapy and chemotherapy were performed. After 66 Gy ir-radiation and ACNU administration, his neurolo-gical deficits gradually improved. The patient was discharged from the hospital on foot on August 7, 1987. The sagittal MRI taken on January 24, 1988 disclosed that the brain-stem swelling was appa-rently diminished.

Maffucci's syndrome is a congenital, non-heredi-tary mesodermal dysplasia associated with multiple enchondromas and subcutaneous hemangioma. Al-though numerous tumors of the central nervous system have been described in association with Maffucci's syndrome, to our knowledge, no mention has been made of lesions in the brain-stem. The present case is an extremely rare instance of this syndrome complicated by the occurrence of a brain-stem tumor.