- Case Report
- A case of Menkes disease with unusual hepatomegaly
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Go Un Jeong, Anna Cho, Hee Hwang, Yong Seung Hwang, Ki Joong Kim, Jong Hee Chae, Jeong Kee Seo
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Clin Exp Pediatr. 2008;51(5):538-541. Published online May 15, 2008
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Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective- tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This report describes a four- month-old boy with neurological symptoms typical of Menkes disease plus unusual liver involvement. He developed seizures at three months of age and exhibited hypotonia, cephalhematoma,... |
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