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本文报告一家系患常染色体显性综合征,表现为中年发病,卒中样发作,广泛白质病变,无碎红纤维(ragged red fiber),肌肉脂类沉积症和无明显意义的各种免疫异常。一家系45人,第3代18人,4代27人;9例(男6、女3)患复发性卒中(突发性脑局灶病变;井不同程度恢复);初发年龄30～60岁,3名出现假延髓病性麻痹,2例痴呆。3名呈偏头痛样发作,1例出现明显精神障碍,另1例出现感音性耳聋。第1、2代4人曾患复发性卒中。45人做MRI,其中9名患者全部做头CT,CT显示小而界限清晰低密度灶(无对比加强)散在整个基底节及邻近白质、外囊部位占优势。半球白质可见弥漫低密度及融合灶。二类病灶由MRI 证实。8名患者
This article reports a family of autosomal dominant syndromes characterized by middle-aged onset, stroke-like episodes, extensive white matter lesions, ragged red fibers, muscle lipidosis, and various immunological abnormalities that are of no apparent significance . A family of 45 people, the third generation of 18 people, 4 generations of 27 people; 9 cases (male 6, female 3) suffering from recurrent stroke (sudden brain lesions; well restores to varying degrees); initial age 30-60 Three children had pseudobulbar palsy and two dementias. 3 were migraine-like seizures, 1 case of significant mental disorders, another case of sensorineural deafness. The first and second generation 4 people had recurrent stroke. Of the 45 patients who underwent MRI, nine of them had a head CT, and the CT showed a small, well-defined low-density lesion (no contrast enhancement) scattered throughout the basal ganglia and adjacent white matter with the outer capsule site predominating. Hemispheric white matter diffuse low density and fusion foci. The second category was confirmed by MRI. 8 patients