Korean J Dermatol.
2002 Nov;40(11):1414-1418.
A Case of Menkes Syndrome
- Affiliations
-
- 1Department of Dermatology, College of Medicine, Pusan National University, Pusan, Korea. ckoh@pusan.ac.kr
- 2Department of Pediatrics, College of Medicine, Pusan National University, Pusan, Korea.
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.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Rare Kinky Hair Disease: Menkes Syndrome
- Vesicostomy for Upper Urinary Tract Preservation in Menkes Disease
- A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene
- An Anesthetic Experience in a Patient with Menkes Disease: A case report
- A case of Menkes disease with unusual hepatomegaly
