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目的 探讨Menkes病的临床特点及诊断方法,提高对Menkes病的认识.方法 回顾分析1例Menkes病患儿临床、实验室检查及影像学特点.结果 患儿为男婴,发病年龄为2个月27 d,以癫痫发作为首发症状,头发稀疏卷曲,肤色白,小下颌,伴精神运动发育迟滞;血清铜及铜蓝蛋白均显著降低;头颅MRA可见颅内血管蛇形迂曲,MRI提示进行性基底节区对称性异常病灶扩大伴小脑萎缩;与Menkes病相关的ATP7A基因chrX:77264579-77302087区域存在缺失.结论 Menkes病是一种ATP7A基因突变引起铜代谢紊乱,导致多系统受累的X连锁隐性遗传病.依靠特征性的临床特点、血生化及影像学检查可临床诊断,ATP7A基因检测可确诊.“,”Objective To explore the clinical features and diagnosis methods of Menkes disease (MD), and to reinforce the knowledge of MD. Methods The clinical and laboratory features and imaging characteristics of the infant with MD were reviewed. Results The infant mentioned in this article was male and the age of onset was 2 months and 27 days after birth. The infant with MD initiated from seizures. His clinical manifestations including peculiar kinky hair, pale skin, micromandible and mental retardation. The serum copper and ceruloplasmin concentrations significantly reduced. The magnetic resonance angiogram images showed the abnormal tortuosity of his intracranial vessels. The magnetic resonance images showed progressive expansion of symmetrical abnormal lesions of basal ganglia, involving the cerebellar atrophy. The chrX: 77264579-77302087 region of the ATP7A gene associated with Menkes disease showed deletion. Conclusion MD is a X-linked recessive genetic disease caused by ATP7A gene mutation resulting in copper metabolism disorder. MD is also a multisystemic disease.Clinical diagnosis can be made on the basis of clinical features, blood biochemical examination and radiological findings.Final diagnosis depends on gene sequencing.