Nordenbo A M, Tønnesen T
Acta Neurol Scand. 1985 Jan;71(1):31-6. doi: 10.1111/j.1600-0404.1985.tb03163.x.
A woman aged 21 with a variant form of metachromatic leucodystrophy (MLD) combined with another form of leucodystrophy is described. The clinical symptoms were retinitis pigmentosa and progressive neurological deficits such as mental retardation, dystonia, pyramidal tract involvement and peripheral neuropathy. The biochemical findings were marked deficiency of arylsulfatase-A and cerebroside-sulfatase in cultured fibroblasts and excretion of sulfatides in the urine. Sulfatide-loading of cultured fibroblasts showed almost normal uptake and degradation of sulfatides. The patient's sister suffers from a clinically similar neurological disease, but normal activity of arylsulfatase-A was found in her leucocytes. A severe oral-facial dystonia in the patient was successfully controlled by l-dopa.
本文描述了一名21岁女性，患有变异型异染性脑白质营养不良（MLD）并合并另一种脑白质营养不良。临床症状包括色素性视网膜炎和进行性神经功能缺损，如智力发育迟缓、肌张力障碍、锥体束受累及周围神经病变。生化检查发现，培养的成纤维细胞中芳基硫酸酯酶A和脑苷脂硫酸酯酶明显缺乏，尿中硫酸脑苷脂排泄增加。培养的成纤维细胞进行硫酸脑苷脂负载试验显示，硫酸脑苷脂的摄取和降解几乎正常。患者的姐姐患有临床症状相似的神经系统疾病，但在其白细胞中发现芳基硫酸酯酶A活性正常。患者严重的口面部肌张力障碍通过左旋多巴成功得到控制。
