Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder

Lior T. Haftel, Dorit Lev, Varda Barash, Aliza Gutman, Yoram Bujanover, Tally Lerman-Sagie

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)386-389
Number of pages4
JournalJournal of Child Neurology
Volume15
Issue number6
DOIs
StatePublished - Jun 2000
Externally publishedYes

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