星細胞腫を合併したvon Recklinghausen病の家族例

Familial astrocytoma associated with von Recklinghausen's disease:report of two cases

I．はじめに

　von Recklinghausen病（neurofibromatosis type 1：NF−1）は遺伝子上の17q11.2の突然変異で，2500—4000人に1人の割合で発生し^10），遺伝形式は常染色体優性遺伝とされている．本症に合併する脳腫瘍としては視神経膠腫が有名である^14）．視神経膠腫以外の脳腫瘍の合併は稀であり，これらは小脳及び脳幹部に生じることが多く，テント上に発生した症例は少ない^{2,4,9,11,15,18）}．今回われわれはNF−1患者で大脳半球に星細胞腫を合併した家族例を経験したので報告する．

Two cases of astrocytoma associated with von Reck-linghausen's disease (neurofibromatosis type; NF-1) were reported. The first case wes a 60-year-old man who had been diagnosed as von Recklinghausen's dis-ease on the basis of skin findings. Magnetic resonance imaging (MRI) showed a tumor in the left temporal lobe. Partial removal was performed with neuronaviga-tor, and because of the existence of Rosenthal fiber the histological daiagnosis was pilocytic astrocytoma. Radiatoin therapy was performed. The second case was a 6-year-old boy suffering from headache and left hemi-paresis including his face. MRI showed a tumor with a cyst in the right thalamus and obstructive hydrocepha-lus. Initially CT-guided stereotactic biopsy was per-formed, and the histological diagnosis, on the basis of increased cellularity, pleomorphism and nuclear atypia without necrosis or vascular proliferation, was anaplas-tic astrocytoma. Radiation and chemo-immuno therapy were carried out after V-P shunt. It is well known that von Recklinghausen's disease (NF-1) is often associ-ated with optic glioma (5-36%). In the literature, the glioma seldom occurs in other parts of the brain, supra-tentorial glioma especially is rare. Only two familial cases of supratentorial glioma associated with von Recklinghausen's disease have been reported. The prognosis of supratentorial glioma associated with NF-1 was poor in these reports. In this paper, the dia-gnostic and therapeutic problems are discussed.