A Case of Menkes Syndrome.
- Author:
Do Sang JUNG
1
;
Ju Hyun JO
;
Chang Keun OH
;
Ho Sun JANG
;
Kyung Sool KWON
;
Sang Ook NAM
Author Information
1. Department of Dermatology, College of Medicine, Pusan National University, Pusan, Korea. ckoh@pusan.ac.kr
- Publication Type:Case Report
- Keywords:
Menkes syndrome;
Pili torti
- MeSH:
Adenosine Triphosphatases;
Angiography;
Brain;
Ceruloplasmin;
Connective Tissue;
Copper;
Genes, vif;
Hair;
Humans;
Male;
Menkes Kinky Hair Syndrome*;
Neurodegenerative Diseases;
Seizures;
Wills
- From:Korean Journal of Dermatology
2002;40(11):1414-1418
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Menkes syndrome is a rare fatal neurodegenerative disease with X-linked recessive inheritance. The clinical characteristic features are progressive neurological disturbances, arterial degeneration, connective tissue and hair abnormalities. This syndrome is a disorder of copper transport caused by mutations in a gene for a copper-transporting P-type ATPase. We have experienced a case of Menkes syndrome in an eight-month old male patient, who manifested seizure, developmental delay and characteristic pili torti. He was diagnosed by clinical features, laboratory tests such as low serum copper and ceruloplasmin level, cerebral atropy in brain magnetic resonance(MR) image and arterial abnormality in MR angiography. We review literatures and describe the distinctive features of this rare disorder.
