异染性脑白质营养不良一例并文献复习

A case report of metachromatic leukodystrophy and literature review

目的分析1例异染性脑白质营养不良(metachromatic leukodystrophy,MLD)患者的诊疗经过,提高对本病的认识。方法总结2019年8月首都医科大学宣武医院收治的1例MLD患者的临床资料,并进行文献复习。结果患者为20岁男性,青少年期起病,以精神行为异常,认知能力下降为主要表现,后逐渐发展至生活不能自理,而运动系统正常。结合头颅MRI发现典型的脱髓鞘表现,实验室检查发现白细胞芳基硫酸酯酶A(aryl sulfatase A,ASA)活性明显降低,完善基因检查ARSA基因存在复合杂合突变c.1108-3C>G/c.452A>G。其中c.452A>G为新突变,尚未见报道。结论青少年型异染性脑白质营养不良罕见,本研究发现新的基因突变位点,扩大了MLD的突变谱,同时证明了MLD临床表型的复杂性,加深了对该病的认识。

Objective To analyze the diagnosis and treatment of metachromatic leukodystrophy(MLD)and improve the understanding of the disease.Methods The clinical data of a MLD patient was reviewed.Results The patient was 20 years old,the onset of the disease occured in adolescence,mental behavior abnormalities,cognitive changes were the main performances,and then the patient could not take care of himself gradually,but the motor function was normal.Combined with cranial MRI,typical demyelinating manifestations were found.Arylsulfatase A(ASA)activity in leukocytes were decreased significantly.There were compound heterozygous variants in the ARSA gene(c.1108-3 C>G/c.452 A>G).And c.452 A>G was a novelvariant,which had not been reported.Conclusions The juvenile MLD are rare.The new ARSA allele expands the mutation spectrum of MLD,and shows the complexity of the clinical phenotype of MLD,which deepens the understanding of the disease.