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Familial Mitochondrial Intestinal Pseudo-Obstruction and Neurogenic Bladder

Pediatrics Department, Tel-Aviv University, Tel Aviv

Dorit Lev, MD

Genetics Institute, Tel-Aviv University, Tel Aviv, Metabolic-Neurogenetic Clinic Medical Center, Holon, and Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv

Varda Barash, PhD

Biochemistry Department Hadassa Medical Center, Hebrew University, Jerusalem, Israel

Aliza Gutman, MD

Biochemistry Department Hadassa Medical Center, Hebrew University, Jerusalem, Israel

Yoram Bujanover, MD

Pediatrics Department, Tel-Aviv University, Tel Aviv

Tally Lerman-Sagie, MD

Pediatric Neurology Unit, Tel-Aviv University, Tel Aviv, asagie{at}ccsg.tau.ac.il, Metabolic-Neurogenetic Clinic Medical Center, Holon, and Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv

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. (J Child Neurol 2000;15:386-389).

Journal of Child Neurology, Vol. 15, No. 6, 386-389 (2000)
DOI: 10.1177/088307380001500606


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