Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C: A New Mitochondrial Disease?.
- Author:
Sung Sang YOON
1
;
Mee Suk LEE
;
Man Ho KIM
;
Te Gyu LEE
;
Dae Il CHANG
;
Kyung Cheon CHUNG
Author Information
1. Department of Neurology, College of Medicine, Kyung Hee University, Korea. HSYoon96@hitel.net
- Publication Type:Case Report
- Keywords:
Mitochodrial Disease;
Neurogenic bladder;
T8356C
- MeSH:
Humans;
Intestinal Pseudo-Obstruction*;
MERRF Syndrome;
Mitochondrial Diseases*;
Ophthalmoplegia, Chronic Progressive External;
Point Mutation*;
Urinary Bladder, Neurogenic*
- From:Journal of the Korean Neurological Association
2003;21(3):311-314
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of myoclonic epilepsy with ragged-red fibers. To the best of our knowledge, this is the first report of a mitochondrial syndrome consisting of intestinal pseudo-obstruction, neurogenic bladder, and progressive external ophthalmoplegia, point mutation at T8356C. We suggest that this could comprise a new mitochondrial disease rather than a new variant of mitochondrial neurogastrointestinal encephalomyopathy.
