Menkes病1例报告并文献复习
冯隽;汤继宏;刘芳;张利亚;黄静
【期刊名称】《中国血液流变学杂志》 【年(卷),期】2017(027)003
【摘要】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
Menkes病1例报告并文献复习
