title: Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder.
abstract: Intestinal dysmotility and neurogenic bladder have been described as part of two autosomal-recessive mitochondrial disorders assumed to be due to a defect in communication between the nuclear and mitochondrial genomes: myoneurogastrointestinal encephalopathy (MNGIE) and diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome). Partial cytochrome c oxidase deficiency has been described in both. We describe three Ashkenazi Jewish siblings with progressive intestinal dysmotility, neurogenic bladder, and autonomic manifestations but no central nervous system involvement. Cytochrome c oxidase deficiency was demonstrated in peripheral and multiple intestinal muscle biopsies. Mitochondrial DNA analysis of an intestinal biopsy of patient 1 showed heteroplasmy consisting of a normal 16.5-kb band and an approximately 28-kb band, suggestive of a duplication. Mitochondrial DNA analysis of a muscle biopsy of patient 2 showed multiple deletions, mainly 10- and 11-kb bands. We suggest that this unique combination of intestinal pseudo-obstruction and neurogenic bladder could comprise a new autosomal-recessive mitochondrial disorder.
authors.affiliation: Pediatrics Department, Wolfson Medical Center, Holon, Israel.
authors.forename: L T
authors.initials: LT
authors.lastname: Haftel
authors.forename: D
authors.initials: D
authors.lastname: Lev
authors.forename: V
authors.initials: V
authors.lastname: Barash
authors.forename: A
authors.initials: A
authors.lastname: Gutman
authors.forename: Y
authors.initials: Y
authors.lastname: Bujanover
authors.forename: T
authors.initials: T
authors.lastname: Lerman-Sagie
mesh_terms: D000293:Adolescent; D000328:Adult; D001342:Autonomic Nervous System Diseases / Q000209:etiology; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000201:enzymology / Q000209:etiology*; D007585:Jews / Q000235:genetics; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D009130:Muscle, Smooth / Q000473:pathology; D013577:Syndrome; D001750:Urinary Bladder, Neurogenic / Q000201:enzymology / Q000209:etiology*
chemical_list: D004272:DNA, Mitochondrial; D003576:Electron Transport Complex IV