Clinical and Experimental Pediatrics

Search

Page Path

HOME
Search

Case Report

A case of Menkes disease with unusual hepatomegaly

Go Un Jeong, Anna Cho, Hee Hwang, Yong Seung Hwang, Ki Joong Kim, Jong Hee Chae, Jeong Kee Seo

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

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,...

MOST CITED ACCEPTED ARTICLES

Cited By 17	Neurodevelopmental outcomes of preterm infants
Cited By 17	Long COVID in children and adolescents: prevalence, clinical manifestations, and management strategies
Cited By 13	Association of gut microbiota with obesity in children and adolescents
Cited By 12	Gut microbiota affects brain development and behavior
Cited By 12	Nonalcoholic fatty liver disease and insulin resistance in children

+more

Anxiety disorders presenting as gastrointestinal symptoms in children – a scoping review

Prognostic role of midregional proadrenomedullin in predicting infection in pediatric cancer with febrile neutropenia

Screen time and neurodevelopment in preschoolers: addressing a growing concern in pediatric practice

The role of serum zinc and selenium levels in etiology of febrile seizures

Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature

+more

ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES

FOR CONTRIBUTORS

ABOUT

Editorial Office: Korean Pediatric Society
#1606 Seocho World Officetel, 19 Seoun-ro, Seocho-ku, Seoul 06732, Korea
Tel: +82-2-3473-7306 Fax: +82-2-3473-7307 E-mail: office@e-cep.org

Clinical and Experimental Pediatrics is an open access journal. All articles are distributed under the terms of the Creative Commons Attribution NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/)