J Korean Neurol Assoc.  2003 Jun;21(3):311-314.

Mitochondrial Intestinal Pseudo-Obstruction with Neurogenic Bladder Syndrome: Point Mutation at T8356C: A New Mitochondrial Disease?

Affiliations
  • 1Department of Neurology, College of Medicine, Kyung Hee University, Korea. HSYoon96@hitel.net
  • 2Department of Neurology, College of Medicine, Seoul National University, Korea.

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.

Keyword

Mitochodrial Disease; Neurogenic bladder; T8356C

MeSH Terms

Humans
Intestinal Pseudo-Obstruction*
MERRF Syndrome
Mitochondrial Diseases*
Ophthalmoplegia, Chronic Progressive External
Point Mutation*
Urinary Bladder, Neurogenic*
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