A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis.

Park,  Jin Seok; Lee,  Jeong Min; Ki,  Chang Seok; Kim,  Young Eun; Rhie,  Seonkyeong; Chae,  Kyu Young

doi:2014.22.3.186

Ann Child Neurol > Volume 22(3); 2014 > Article

Case Report

Journal of the Korean Child Neurology Society 2014;22(3):186-190.
DOI: https://doi.org/10.26815/jkcns.2014.22.3.186 Published online September 30, 2014.

A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis.

Jin Seok Park, Jeong Min Lee, Chang Seok Ki, Young Eun Kim, Seonkyeong Rhie, Kyu Young Chae

¹Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seoul, Korea. starclusters@gmail.com
²Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Abstract

Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.

Key Words: Menkes Kinky Hair Syndrome, Pyloric Stenosis, Nitric Oxide Synthase, Copper, ATP7A protein