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异染性脑白质营养不良(Metachromatic Leukodystrophy,MLD)是一种少见的中枢及周围神经系统脂质沉积病。原因系溶酶体芳香硫酸酯酶A缺乏造成硫脂大量沉积于神经系统及其他组织器官内。晚婴儿型MLD为该病最常见的临床类型。作者对2例可疑患者作腓肠神经活检并进行显微及超微病理学检查,诊断为晚婴儿型MLD。 1 病历摘要及病理结果 例1:男,4.5岁,孕1产1,足月平产。1.5岁开始走路,但极易摔倒,肢体活动不灵活伴抽搐,近一年头脑反应迟钝。父母系姑表亲婚配。无类似家族
Metachromatic Leukodystrophy (MLD) is a rare central and peripheral nervous system lipid deposition disease. The reason is the lack of lysosomal aromatic sulfatase A caused a large number of deposition of sulfur in the nervous system and other tissues and organs. Late infant MLD is the most common clinical type of disease. The authors performed sural nerve biopsies on 2 suspicious patients and performed microscopic and ultrastructural pathological examinations to diagnose late infant MLD. A summary of medical records and pathology results Example 1: Male, 4.5 years old, 1 pregnant and 1, full-term pregnancy. 1.5-year-old began to walk, but easily fall, physical activity is not flexible with convulsions, the past year almost unresponsive. Parents cousin cousin marriage. No similar family