摘要
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 of metachromatic leukodystrophy (MLD) and diagnostic value of measuring ASA activity in peripheral leukocytes.Methods: The analysis was done in 6 patients with MLD according to the clinical and experimental data.Results: There were 5 cases of the late infantile form with onset of symptoms ranging from 1 to 2. 5 years of age and 1 case of the juvenile form at 6 years. All had a gait disorder at onset with progressive course and had a result of spastic paraplegia or tetraplegia in both legs or limbs. Speech disturbance occurred in 3 cases and mental regression in 3 cases. Cramal CT scan revealed symmetric low density area in cerebral hemisphere in 3 cases. Cramal MRI showed symmetric T2-high signal intensity lesions on bilateral white matter in 5 cases, 6 cases had low or deficient ASA activity. Conclusion: The clinical features of MLD are progressive motor deterioration. speech disturbance and mental regression. The white matter abnormalities on cramal CT and MRI are useful for the diagnosis of MLD. The diagnosis is based on the deficiency of ASA activity in peripheral leukocytes.
出处
《实用儿科临床杂志》
CAS
CSCD
1999年第2期98-99,共2页
Journal of Applied Clinical Pediatrics
