10例异染性脑白质营养不良的临床特征及其诊断  

Clinical characteristics and diagnosis of metachromatic leukodystrophy in 10 cases

作　　者：张月华[1] 汤学专 郭玉凤[2] 张为民[2] 施惠平[2] 姜玉武[1] 秦炯[1] 吴希如[1] 

机构地区：[1]北京医科大学第一医院儿科,100034 [2]中国医学科学院基础医学研究所

出　　处：《中华儿科杂志》2000年第5期292-295,共4页Chinese Journal of Pediatrics

摘　　要：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 ,发病年龄为 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例病程短外 ,9例患儿起病后均表现为进行性的运动障碍、语言和智力倒退。 (4)CT检查 3例 ,示双侧脑室体旁白质对称性低密度影 ;(5 )MRI检查 7例 ,示双侧大脑半球半卵圆中心白质呈对称性长T1、长T2 信号影。 (6 ) 10例患儿白细胞ASA活性缺乏或显著低于正常。结论　进行性运动障碍、语言和智力倒退为本病的主要临床特征 ;CT、MRI检查显示脑白质的异常改变有助于诊断 ;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.

关 键 词：异染型脑白质营养不良 诊断 芳基硫酸酯酶 MLD 

分 类 号：R596[医药卫生—内科学]