Familial mitochondrial intestinal pseudo-obstruction and neurogenic bladder

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Updated: Oct 15, 2026

A Mouse Model of Intestinal Partial Obstruction
07:33

A Mouse Model of Intestinal Partial Obstruction

Published on: March 5, 2018

L T Haftel1, D Lev, V Barash

  • 1Pediatrics Department, Wolfson Medical Center, Holon, Israel.

Journal of Child Neurology
|June 27, 2000
PubMed

Insights

This study identifies a potential new mitochondrial disorder in Ashkenazi Jewish siblings presenting with intestinal dysmotility and neurogenic bladder, suggesting a nuclear-mitochondrial communication defect.

Area of Science:

  • Genetics
  • Mitochondrial Biology
  • Neurology

Background:

  • Autosomal-recessive mitochondrial disorders like MNGIE and Wolfram syndrome involve nuclear-mitochondrial genome communication defects.
  • These disorders can manifest with intestinal dysmotility and neurogenic bladder, often with partial cytochrome c oxidase deficiency.

Observation:

  • Three Ashkenazi Jewish siblings presented with progressive intestinal dysmotility, neurogenic bladder, and autonomic issues, but no central nervous system involvement.
  • Cytochrome c oxidase deficiency was confirmed in peripheral and intestinal muscle biopsies.
  • Mitochondrial DNA analysis revealed duplications and deletions, indicating genetic abnormalities.

Findings:

  • The siblings exhibited a unique combination of intestinal pseudo-obstruction and neurogenic bladder.
  • Evidence suggests a defect in nuclear-mitochondrial genome communication.
  • Genetic analysis identified specific mitochondrial DNA alterations.

Implications:

  • This presentation may represent a novel autosomal-recessive mitochondrial disorder.
  • Understanding this disorder can improve diagnosis and management of gastrointestinal and bladder dysfunction in mitochondrial diseases.
  • Further research is needed to elucidate the specific genetic defect and its pathogenic mechanisms.

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