title: [Cockayne's syndrome presenting cerebral ischemic attack: case report].
abstract: 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 115.8 cm tall and his weight 20 kg. The characteristic manifestation of CS, i. e., dwarfism, mental retardadation, cachectic feature, retinal atrophy, neural deafness and calcification of bilateral basal ganglia were all noticed. A CT scan on admission revealed marked brain atrophy as well as the intracranial calcifications, while no lesions compatible with his neurological 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 atherosclerotic 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 cholesterol, increased triglyceride, decreased HDL and increased apoprotein B and C II were complicated for the risk factor of the atherosclerosis. It's controversial that early progress of atherosclerosis is due to ideopathic original feature of CS or to the secondary change from these complications.(ABSTRACT TRUNCATED AT 250 WORDS)
mesh_terms: D000328:Adult; D002545:Brain Ischemia / Q000150:complications* / Q000000981:diagnostic imaging; D002533:Cerebral Angiography; D003057:Cockayne Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D048909:Diabetes Complications; D004392:Dwarfism / Q000150:complications*; D006801:Humans; D002537:Intracranial Arteriosclerosis / Q000150:complications; D050356:Lipid Metabolism; D008297:Male; D014057:Tomography, X-Ray Computed