可逆性脳虚血症状を呈したCockayne症候群の1例

COCKAYNE'S SYNDROME PRESENTING CEREBRAL ISCHEMIC ATTACK:CASE REPORT

　抄録　網膜色素変性症，神経性聾，頭蓋内石灰化などの特徴的な症状を伴う小人症，Cockayne症候群に，可逆性脳虚血症状を呈した症例を報告する。29歳，男性で両親間に近親結婚があり，生後3か月より発育遅延，6歳頃より聴力障害，12歳頃より視力障害が出現している。右不全片麻癖，言語障害を呈して入院，CT，脳血管写所見より脳虚血による症状と診断され，血栓溶解剤などの保存的療法により第4病日に症状は軽快した。脳血管写で左内頸動脈のC1〜C2部に約50％の狭窄があり，また右中大脳動脈の狭窄や右内頸動脈動脈瘤も見られ，動脈硬化の進行した所見であった。血液生化学的所見では，糖尿病，血清脂質の異常がみられ，いずれも動脈硬化を助長する因子であった。われわれが渉猟しえた範囲では臨床的に血管障害を呈したCockayne症候群の報告はなく，これは多くの身体的障害により不慮の事故や栄養失調などで短命に終ることが多かったためと考えられ，20歳を超えるような症例では脳血管障害の危険は極めて高いと考えられる。背年期での脳血管障害はCockayne症候群のcriteriaに加えられる項目といえる。

A 29-year-old man with Cockayne's syndrome (CS), presenting reversible ischemic neurological deficit is reported. In his past history, hearing disturbance developed at 6 years old and visual disturbance at 12 years old. His parents have consanguinious marriage. He came to our hospital complaining of right-sided hemiparesis and speech disturbance. He was 115.8cm tall and his weight 20kg. The characteristic manifestation of CS, i. e, dwarfism, mental retardadation, cachectic feature, retinal atrophy, neural deafness and cal-cification of bilateral basal ganglia were all no-ticed. A CT scan on admission revealed marked brain atrophy as well as the intracranial calcifica-tions, while no lesions compatible with his neuro-logical findings were detected. Cerebral ischemic state was mostly suspected. Following up with conservative therapy by the use of fibrinolytic agent, his neurological deteriorations disappeared on the 4th hospital day. Cerebral angiograms showed stenotic lesions of both C1-C2 portion of the left internal carotid artery and the right middle cerebral artery, and the aneurysm in the right internal carotid artery. Such atheroscle-rotic vascular change as observed in the cerebral angiograms in this case have progressed rapidly for his age. In this case, diabetes mellitus and hyperlipoproteinemia such as increased total cho-lesterol, increased triglyceride, decreased HDL and increased apoprotein B and CII were complicated for the risk factor of the atherosclerosis. It's con-troversial that early progress of atherosclerosis is due to ideopathic original feature of CS or to the secondary change from these complications. Pre-viously most cases of CS, before 20 years old died of trauma because of his handicaps, peumonia and nutritional disorder. If the patients of CS survive over 20 years old, the risk of cerebrovascular dis-ease will develop significantly higher as compared with his healthy age. We propose that the cere-brovascular disease should be added to one of the criteria in patient with adolescent CS.