Haltia T, Palo J, Haltia M, Icén A
Arch Neurol. 1980 Jan;37(1):42-6. doi: 10.1001/archneur.1980.00500500072011.
We describe nine patients with metachromatic leukodystrophy. Seven patients had the juvenile form; in two others, the age at onset was 1 year, but the clinical course was different from the late infantile form. The age at onset ranged from 1 to 18 years; the duration ranged from three to 17 years. Mental retardation associated with motor impairment and pathological EEG and electromyographic findings were the main clinical findings. In patients with early onset, mental retardation was almost the only symptom for the first ten years. Segmental demyelination, remyelination, onion bulb formation, and occasional perivascular macrophages containing metachromatic lipid were the main findings in sural nerves studied after biopsy. The mean arylsulfatase-A (ASA) activity was 1.3 nmoles of nitrocatechol sulfate per milligram of protein per 30 minutes in peripheral leukocytes of the patients, 62.0 in the heterozygotes, and 139.0 in the controls. The ASA band could not be detected in enzyme electrophoresis.
我们描述了9例异染性脑白质营养不良患者。7例为青少年型；另外2例发病年龄为1岁，但临床病程与晚婴儿型不同。发病年龄为1至18岁；病程为3至17年。智力发育迟缓伴运动障碍以及病理性脑电图和肌电图表现是主要临床特征。在发病早的患者中，头十年智力发育迟缓几乎是唯一症状。活检后研究的腓肠神经主要表现为节段性脱髓鞘、再髓鞘化、洋葱球形成，以及偶尔出现含异染性脂质的血管周围巨噬细胞。患者外周血白细胞中芳基硫酸酯酶-A（ASA）的平均活性为每30分钟每毫克蛋白质1.3纳摩尔硫酸硝基邻苯二酚，杂合子为62.0，对照组为139.0。酶电泳中未检测到ASA条带。
