[A case of neurofibromatosis with occlusion of multiple cerebral artery, moyamoya phenomenon and scoliosis].

Cases of cerebrovascular occlusive lesion with neurofibromatosis have rarely been reported. We report here, the case of a 57-year-old woman who twice had sudden onset of brain hemorrhage. She had a family history of neurofibromatosis. Her elder daughter and her niece had a diagnosis of neurofibromatosis and examination showed café au lait spots and neurofibroma over the body, accompanied with scoliosis. CT scans revealed subependymal hemorrhage at the first onset of cerebral bleeding and secondly showed a high-density mass at the left basal ganglia. SPECT(99mTC-HMPAO) showed decreased activity in the left frontal and temporal lobe. Angiogram revealed multiple occlusive lesions of the cerebral arteries, including occlusions of the bilateral anterior cerebral artery and the right middle cerebral artery at the proximal portion and stenosis of the left posterior artery at the proximal portion. Abnormal vascular networks (so called Moyamoya phenomenon) at the base of the brain were also seen bilaterally. Seizinger and others have found a genetic locus of this disease in the use of genetic engineering, and Riccardi showed that mast cell is related to the tumorous growth of neurofibroma and suggested a possibility of medical treatment for growing neurofibroma by stabilizing mast cell function with ketotifen. We anticipate the treatment for this disease will be established in recent years.