10例异染性脑白质营养不良的临床特征及其诊断

目的 分析异染性脑白质营养不良（ＭＬＤ）的临床特征，评价头颅ＣＴ、ＭＲＩ及白细胞芳基硫酸酯酶Ａ（ＡＳＡ）对ＭＬＤ的诊断价值。方法 对１０例ＭＬＤ患儿临床与实验室资料进行分析。结果 （１）晚婴型６例，发病年龄为１０～３０个月，平均为１９个月；少年型４例，发病年龄迷４～８岁。（２）首发症状为步态异常（６例）、言语不清（２例）、易哭闹（１例）、惊厥（１例）。（３）除１例闰程短外，９例患儿起病后均表现为进

Clinical characteristics and diagnosis of metachromatic leukodystrophy in 10 cases

Objective To analyze the clinical characteristics of metachromatic leukodystrophy (MLD) and evaluate the diagnostic values of computerized tomography (CT), magnetic resonance imaging (MRI) and measuring arysulfatase A (ASA) activity in peripheral leukocytes. Methods The clinical and experimental data (including ASA activity, urine amino acids, routine cerebrospinal fluid analysis, fundal examination, electroencephalography, etc.) of 10 children with MLD were analysed. Results Six cases had late infantile type with onset of symptoms at the age of 10 to 30 months and 4 cases had juvenile type with onset of symptoms at the age of 4 to 8 years. The first symptom manifested as gait disorder in 6 cases, speech disturbance in 2 cases, prone to crying in 1 case and seizure in 1 case. Except for 1 case who had a short course of disease, all the 9 cases had the manifestations of progressive motor deterioration, speech disturbance and mental regression. Cranial CT scan revealed symmetric low density area in cerebral hemisphere in 3 cases. Cranial MRI showed symmetric T 2 high signal intensity on bilateral white matter in 7 cases. All the 10 cases had deficient or low ASA activity. Conclusion The clinical characteristics of MLD were progressive motor deterioration, speech disturbance and mental regression. The white matter abnormalities on cranial CT and MRI may be useful for the diagnosis of MLD. The definitive diagnosis should be based on the deficiency of ASA activity in peripheral leukocytes.