Menkes病的临床特点(附1例报告)

Clinical features of Menkes disease(report of one case)

目的 探讨ATP7A基因变异引起的Menkes病(MD)的临床特点。方法 回顾性分析1例MD患儿的临床资料,并进行文献复习。结果 本例患儿为7月龄男婴,首发症状为癫痫、喂养困难和精神运动发育迟滞,体征有特殊面容、头发异常、漏斗胸及低张力。生化检查发现血清铜蓝蛋白、血清铜减低。头颅MRI呈弥漫性脑萎缩、脑发育不良、硬膜下积液。基因检测显示X染色体上ATP7A基因剪接位点存在新发半合子变异c.2916+2(IVS14)T>C,验证其母为表型正常的杂合携带者。结论 MD多于婴幼儿时期起病,可导致神经系统、结缔组织等多系统受累,需结合基因检测进行诊断。

Objective To investigate the clinical features of Menkes disease(MD)caused by ATP7A gene mutation.Methods Clinical data of one MD patient was retrospectively analyzed,and the literature on the MD cases was reviewed.Results The patient was a 7-month-old male.The initial symptoms were epilepsy,feeding difficulties and psychomotor retardation,followed by distinctive facial appearance,hair abnormality,pectus excavatum and hypotonia.Biochemical tests revealed reduced serum ceruloplasmin and copper.Brain MRI showed diffuse cerebral atrophy,cerebral dysplasia and subdural effusion.Genetic testing showed that there was a new hemizygous mutation c.2916+2(IVS14)T>C in the ATP7A gene splicing site on the X chromosome,which verified that the mother was a heterozygous carrier with a normal phenotype.Conclusions MD often starts in infancy and childhood.MD may involve multi-system such as the nervous system and connective tissues,and should be diagnosed with genetic testing.