Pleomorphic xanthoastrocytoma and moyamoya disease in a patient with neurofibromatosis type 1 - case report - .

A 32-year-old man with familial neurofibromatosis type 1 presented with a rare case of coexisting pleomorphic xanthoastrocytoma (PXA) and moyamoya disease manifesting as progressive right hemiparesis. Magnetic resonance (MR) imaging with gadolinium showed an enhanced mass lesion in the left basal ganglia extending to the left parietal lobe. Preoperative angiography showed severe stenosis of the bilateral internal carotid arteries, and moyamoya vessels. The patient underwent open biopsy. Histological examination showed the characteristic findings of PXA. After radiation therapy and chemotherapy, MR imaging showed decreased size and enhancement of the tumor, but his clinical condition worsened with generalized convulsions and consciousness disturbance. He died 1 year and 6 months after the first presentation. Autopsy findings demonstrated necrosis in the main mass and tumor cell dissemination without anaplastic change. The rare combination of PXA and moyamoya disease in the basal ganglia limited treatment options. Injured moyamoya vessels and ischemic condition might have caused tumor progression and dissemination. Radiation therapy, in combination with moyamoya disease, induced decreased cerebral blood flow (CBF) in the left frontal lobe. Tumor dissemination, CBF decrease, and hydrocephalus led to the clinical deterioration of this patient.