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评价异染性脑白质营养不良（MLD）的临床特征和白细胞芳基硫酸酯酶A（ASA）的诊断价值。方法对本院确诊6例MLD患儿临床与实验室检测资科进行分析。结果晚期婴儿型5例，发病年龄1～2．5a，少年型1例6a起病。患儿病前智力发育正常。起病表现均为步态异常，且进行性加重至双下肢或四肢呈痉挛性瘫痪，出现语言及智力倒退各3例。脑CT检查3例示双侧半球对称性低密度影，MRI5例示双侧大脑白质对称性长T1、长T2信号影。6例白细胞ASA活性缺乏或低下。结论进行性运动障碍，语言障碍及智力倒退为本病主要临床特征。CT／MRI脑白质的异常改变有助于诊断。确诊依据白细胞ASA活性减低。
To evaluate the clinical features and diagnostic value of leukocyte aryl sulfatase A (ASA) in patients with heterologous leukodystrophy (MLD). Methods Six cases of MLD diagnosed in our hospital were analyzed in clinical and laboratory tests. Results 5 cases of late infant type, the age of onset of 1 ~ 2.5a, juvenile onset of a case of 6a. Children with normal mental development before disease. The onset of symptoms were abnormal gait, and progressive aggravated to spasm paralysis of both lower extremities or limbs, there were 3 cases of language and mental retardation. 3 cases of brain CT examination showed bilateral hemispheric symmetry of low density, MRI5 cases of bilateral white matter symmetry of long T1, T2 signal. Six cases of leukocyte ASA activity was lacking or poor. Conclusions Progressive dyskinesia, speech impairment and mental retardation are the main clinical features of this disease. CT / MRI abnormal white matter helps to diagnose. The diagnosis is based on the reduction of leukocyte ASA activity.