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

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.