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Mitochondrial neuro-gastrointestinal encephalopathy syndrome

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Abstract

Mitochondrial neurogastrointestinal encephalomyopathy is a rare disorder affecting the pediatric age group with a heterogenous multisystem involvement. We happen to manage a young child with symptoms of constipation since infancy alongwith cachexia, seizures and peripheral neuropathy. The child later went into encephalopathy preterminally. This clinical syndrome fitted very well with mitochondrial neurogastrointestinal encephalomyopathy. The child had elevated lactate levels and electron microscopy of the rectal biopsy was suggestive of a mitochondrial disorder To the best of our knowledge there is no case report of this syndrome from India and since this presents with diagnostic difficulties so is being reported.

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References

  1. Hirano M, Nishigaki Y, Marti R. Mitochondrial neurogastrointestinal encephalomyogathy (MNGIE): a disease of two genomes.Neurology 2004;10:8–17.

    Article  Google Scholar 

  2. Teitelbaum JE, Berde CB, Nurko S, Buonomo C, Perez-Atayde AR, Fox VL. Diagnosis and management of MNGIE syndrome in children: case report and review of the literature. J Pediatr Gastroenterol Nutr 2002;35:377–83.

    Article  PubMed  CAS  Google Scholar 

  3. Bardosi A, Creutzfeldt W, DiMauro S, Felgenhauer K, Friede R, Goebel H, Kohlschutter Aet al. Myo-, neuro-gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.Acta Neuropathol (Berl) 1987;74:248–258.

    Article  CAS  Google Scholar 

  4. Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro Set al. Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogenesis.Neurology 1998;50:99–106.

    Article  PubMed  CAS  Google Scholar 

  5. Hirano M, Justo Garcia-de-Yebenes, Jones AC, Nishino Jet al. Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Maps to Chromosome 22q13.32-qter.Am J Hum Genet, 1998;63:526–533.

    Article  PubMed  CAS  Google Scholar 

  6. Gillis LA, Sokol RJ. Gastrointestinal manifestations of mitochondrial disease.Gastroenterol Clin North Am 2003;32:789–817.

    Article  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of pathology, PGIMER, Chandigarh

    V. Kim

  2. Department of Pediatric Gastroenterology, Hepatology and Nutrition, Postgraduate Institute of Medical Education and Research, Chandigarh

    Anuj Walia & B. R. Thapa

Authors
  1. Anuj Walia
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  2. B. R. Thapa
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  3. V. Kim
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Corresponding author

Correspondence to B. R. Thapa.

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Walia, A., Thapa, B.R. & Kim, V. Mitochondrial neuro-gastrointestinal encephalopathy syndrome. Indian J Pediatr 73, 1112–1114 (2006). https://doi.org/10.1007/BF02763058

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  • DOI: https://doi.org/10.1007/BF02763058

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