OPHTHALMOPLEGIA, DEMYELINATING NEUROPATHY, LEUKOENCEPHALOPATHY MYOPATHY, AND GASTROINTESTINAL DYSFUNCTION WITH MULTIPLE DELETIONS OF MITOCHONDRIAL-DNA - A MITOCHONDRIAL MULTISYSTEM DISORDER IN SEARCH OF A NAME

This article describes a 37-year-old woman with progressive external o phthalmoplegia, peripheral neuropathy, and chronic intractable diarrhe a. Laboratory studies disclosed lactic acidosis, ragged red fibers lac king cytochrome c oxidase, high-normal muscular mitochondrial enzymes, demyelinating neuropathy, leukoencephalopathy and multiple mitochondr ial DNA deletions. This is the fourth patient described with this clin ical syndrome, which represents a separate entity among multisystemic mitochondrial disorders. The patient described here is the first with this syndrome to have multiple mitochondrial DNA deletions. (C) 1994 J ohn Wiley & Sons, Inc.