摘要目的 报道1例常染色体显性遗传成人型脑白质营养不良(ADLD)患者的临床表现、遗传特征、影像学特点及基因检测结果,以有助于临床诊断.方法 报道国内首例ADLD患者诊疗经过.结合辅助检查结果及相关文献复习,分析ADLD特点.结果 本例患者为中年男性,以便秘、勃起障碍为主要表现,隐袭起病,呈缓慢进展性病程.MRI提示双侧大脑半球及桥臂为著的对称性脑白质病变,基因检测发现编码核纤维层蛋白B1的LMNB1基因1～11号外显子重复变异.家族中数人有类似临床症状.结论 自主神经症状合并对称性脑白质病变时,需考虑LMNB1基因相关的ADLD可能.

abstractsObjective To explore the clinical,hereditary,imaging features and genetic testing results of adult-onset autosomal dominant leukodystrophy (ADLD),hoping to help physicians recognize this rare disease early.Methods The first Chinese case of ADLD in a 52-year-old male was reported.Important laboratory data including brain MRI and genetic findings were summarized.The related literatures were also reviewed.Results The patient presented with insidious onset of constipation and erectile dysfunction,and then got worse progressively.Brain MRI showed extensive and symmetrical white matter hyperintensities,predominantly involving cerebral white matter and the middle cerebellar peduncles.A duplication of 1-11 coding exons in the LMNBI gene was identified in this case.Several affected members with a homogeneous phenotype were found in the family.Conclusion LMNB1-related ADLD should be considered as a diagnostic possibility for patients with autonomic dysfunction and symmetrical white-matter abnormalities.