Severe stenosis of the internal carotid artery and intracerebral hematoma associated with neurofibromatosis type 1: a case report

Neurofibromatosis Type 1 produces a broad spectrum of clinical manifestations as a result of widespread dysplasia of mesodermal and neuroectodermal tissues. One of the most serious aspects of the disease relates to the arterial involvement that may occur. We report a case of severe stenosis of the internal carotid artery and intracerebral hemorrhage associated with neurofibromatosis Type 1. A 49-year-old female was admitted to our hospital after she had suddenly become comatose. On admission, she demonstrated a decerebrate posture in response to painful stimuli, and was assessed as grade 200 according to the Japan Coma Scale. Physical examination disclosed widespread cutaneous neurofibromas and cafe-au-lait spots. Computed tomography of the head revealed a right putaminal extensive hematoma, with a maximum diameter of 7 cm. The hematoma was removed. After this surgical treatment, cerebral angiography was performed. It showed severe stenosis of the terminal portion of the right internal carotid artery associated with a fine telangiectatic network, indicating the presence of moyamoya vessels in the basal ganglia. Although intracranial hemorrhage associated with neurofibromatosis type 1 is a rare condition, fine telangiectatic collateral vessels caused by occlusive cerebrovascular disease, intracranial aneurysms, brain tumors, or hypertension caused by pheochromocytoma or stenosis of the renal artery should be considered as the cause of hemorrhage.