All issues > Volume 51(5); 2008

Case Report

Korean J Pediatr. 2008;51(5):538-541. Published online May 15, 2008.

A case of Menkes disease with unusual hepatomegaly

Go Un GU Jeong¹, Anna AN Cho¹, Hee H Hwang¹, Yong Seung YS Hwang¹, Ki Joong KS Kim¹, Jong Hee JH Chae¹, Jeong Kee JK Seo¹

¹Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea

Correspondence Jong Hee JH Chae ,Email: chaeped1@snu.ac.kr

Abstract

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, a sagging face, redundant and hypopigmented skin, and abnormal hair growth. In addition, he had unexplained hepatomegaly and high hepatic transaminase. We confirmed the diagnosis of Menkes disease by mutation analysis of the ATP7A gene. To exclude other possible causes for the hepatic abnormalities, a liver biopsy was performed, revealing intracytoplasmic cholestasis, focal spotty necrosis, and minimal lobular activity. The patient's liver involvement may be an underestimated complication of Menkes disease.

Keywords :Menkes disease, ATP7A gene, Heptomegaly, Infantile spasm