染色体異常，頭蓋内病変を伴うMaffucci症候群の1例

Maffucci's Syndrome with Intracranial Manifestation and Chromosome Abnormalities: A case report

I．はじめに

　Maffucci症候群は先天性，非遺伝性で，多発性内軟骨腫と多発性血管腫を合併する中胚葉形成不全症である．現在までに150例近い報告をみるが，この主たる病巣は四肢骨および軟骨組織で，頭蓋内病巣は比較的稀である．われわれは本症候群に傍鞍部内軟骨腫を伴った症例を経験し，手術および剖検を行う機会を得た．本症例における特長は，頭蓋内病変が比較的短期間に増大，悪性化を呈したこと，腫瘍内出血を伴ったこと，染色体検査で明らかな異常を認めたことであり，これらについて検討し，文献的考察を加えて報告する．

The patient was a 52-year-old woman who was initially admitted to our hospital with a recent history of diplopia, ptosis and visual impairment on the right, adding to 6 years history of the right orbital pain and temporal headache.

She had gradually developed pain and fatigue of the right knee since childhood and had been suffered from multiple subcutaneous tumor in the both hands and the right foot from youth onward. On neuro-logical examination, she has had right exphthalmos and 3rd and 6th cranial nerve palsies on the right. Skull X-ray and CT scan showed parasellar calcified mass on the right.