摘要
一家系4兄妹,3人均在6～8岁发生腹泻、抽搐。16～20岁出现亚急性头痛、失明、皮层盲、抽搐发作、智能衰退,进行性加重6～8个月因衰竭而死亡。头颅CT扫描显示,双侧枕、颞叶低密度病变;大脑病理学特点为全脑灰质层状神经细胞变性脱失、星形细胞增生,呈海绵状脑灰质萎缩,但白质受累较轻,不累及基底节、丘脑、脑干和小脑。1例存活者,临床检查:身材矮小,弓形足,左侧轮替指鼻试验反应差;肌肉活组织检查可见大量不整红边纤维和异常线粒体。根据临床神经病理学特点该病症属于进行性脑灰质萎缩Alper病;而肌肉病理学特征则归于线粒体脑肌病。推测晚发型Alper病可能是线粒体脑肌病的一种类型。
Four sibling of a family with Alper' s disease were reported. Three of them occurred diarrhea and myoclonus at the ages of 6 to 8 years old. During the disease development, symptoms of subacute en-cephalopathy such as headache, visual disturbance, cortical blindness, progressive seizures and mental retardation were presented at the ages of 16 to 20 years old. The downhill progression of disease resulted in death within six to eight months of onset. CT showed hypodensity lesions in the bilateral occipital and temporal lobes. Spongiform changes, which characterized by diffuse neuronal degeneration or loss and astrocytosis, were found most severe in the gray matter. White matter was slightly involved, but basal ganglia, pons, brain stem and cerebellum were not involved. Physical examination of the only survival patient showed short status (165 cm) , arched feet and poor reaction of the left side nose-pointed test. Muscle biopsy of him showed a large amount of Red-Ragged (RR) fibers and abnormal mitochondria. Clinical features and pathological findings of autopsy in all the four patients were consistent with progressive neuronal degeneration of childhood (PNDC) - Alper' s disease. The muscle biopsy showed the characteristic findings of mitochondrial encephalomyopathy. It is considered that the late onset Alper's disease may be classified as a type of mitochondrial encephalomyopathy.
关键词
弥漫性脑硬化
线粒体脑肌病
病理学
系谱
Cerebral sclerosis, diffuse Mitochondrial encephalomyopathies Pathology Pedigree
