PDF(Pubmed)
Abstract：
This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical manifestations vary by age group: late-infantile (rapid progression), juvenile (slower progression), and adult-onset (psychiatric symptoms). A case study details a 23-year-old with progressive vision impairment, motor weakness, and cognitive changes. Examination and MRI findings led to suspicion of MLD, later confirmed by enzyme testing. Optic nerve involvement is emphasized, along with diagnostic criteria involving enzyme assays, imaging, and urinary sulfatide excretion tests. While no cure exists, symptomatic and supportive care, including hematopoietic stem cell transplantation, remains key in MLD management.
摘要：
本摘要概述了异色性脑白质营养不良（MLD），一种源于芳基硫酸酯酶A缺乏的常染色体隐性遗传疾病。MLD导致脑苷硫酸盐积累，引起中枢和外周脱髓鞘。临床表现因年龄组而异：婴儿晚期（快速进展），青少年（进展较慢），和成人发作（精神症状）。一项案例研究详细介绍了一名23岁的进行性视力障碍患者，电机无力,和认知变化。检查和MRI检查结果导致怀疑MLD，后来通过酶测试证实。强调视神经受累，以及涉及酶测定的诊断标准，成像,和尿硫酸脂排泄试验。虽然没有治愈方法，症状和支持性护理，包括造血干细胞移植,仍然是MLD管理的关键。
