Hahn A F, Gordon B A, Hinton G G, Gilbert J J
Ann Neurol. 1982 Jul;12(1):33-6. doi: 10.1002/ana.410120106.
The clinical, pathological, and biochemical findings in a young woman with a new variant of metachromatic leukodystrophy (MLD) are reported. The patient showed slow early development and deteriorated further during her first two decades. Nerve conductions were slow, and a sural nerve biopsy showed features of a sulfatide lipidosis. Urinary sulfatide excretion was comparable to that of patients with classic MLD, yet in vitro activity of arylsulfatase A and B and cerebroside sulfatase activity were normal. Skin fibroblasts cultured in medium supplemented with 3H-labeled sulfatide showed accumulation of labeled sulfatide in large amounts, implying a defect in sulfatide hydrolysis in vivo in spite of intact enzyme activity in vitro.
报告了一名患有新变异型异染性脑白质营养不良（MLD）的年轻女性的临床、病理和生化检查结果。该患者早期发育迟缓，在最初的二十年中病情进一步恶化。神经传导速度减慢，腓肠神经活检显示有硫脂沉积症的特征。尿中硫脂排泄量与经典MLD患者相当，但芳基硫酸酯酶A和B以及脑苷脂硫酸酯酶的体外活性正常。在添加了3H标记硫脂的培养基中培养的皮肤成纤维细胞显示大量标记硫脂的积累，这意味着尽管体外酶活性正常，但体内硫脂水解存在缺陷。
