内頸動脈高度狭窄と脳内出血を合併したNeurofibromatosis Type 1の1例

Severe Stenosis of the Internal Carotid Artery and Intracerebral Hematoma Associated with Neurofibromatosis Type 1 : a case report

I．はじめに

　Neurofibromatosis Type 1（NF1）は遺伝性の中胚葉及び外胚葉系の形成異常を来たす神経皮膚症候群の一つで，多発性神経線維腫，骨病変を合併することが知られており，稀ながら脳血管障害の合併例も報告されている^{3,4,6,10-15,17,18,20,22）}．今回われわれは，NF1に合併した片側内頸動脈高度狭窄とそれに伴う側副血行路の破綻により脳内出血を来たしたと考えられる1例を経験したので報告する．

Neurofibromatosis Type 1 produces a broad spectrum of clinical manifestations as a result of widespreaddysplasia of mesodermal and neuroectodermal tissues. One of the most serious aspects of the disease re-lates to the arterial involvement that may occur. We report a case of severe stenosis of the internal carotidartery and intracerebral hemorrhage associated with neurofibromatosis Type 1. A 49-year-old female wasadmitted to our hospital after she had suddenly become comatose. On admission, she demonstrated a de-cerebrate posture in response to painful stimuli, and was assessed as grade 200 according to the JapanComa 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 dia-meter of 7cm. The hematoma was removed. After this surgical treatment, cerebral angiography was per-formed. It showed severe stenosis of the terminal portion of the right internal carotid artery associatedwith 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 telan-giectatic collateral vessels caused by occlusive cerebrovascular disease, intracranial aneurysms, braintumors, or hypertension caused by pheochromocytoma or stenosis of the renal artery should be consideredas the cause of hemorrhage.