Literature DB >> 16972839

Abdominal pain related to mitochondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade.

Nalan Celebi1, Altan Sahin, Ozgür Canbay, Filiz Uzümcügil, Ulkü Aypar.   

Abstract

Patients diagnosed with abdominal pain related to mitochondrial neurogastrointestinal encephalopathy (MNGIE) may benefit from splanchnic nerve blockade. MNGIE, varying in age of onset and rate of progression, is caused by loss of function mutation in thymidine phosphorylase gene. Gastrointestinal dysmotility, pseudo-obstruction and demyelinating sensorimotor peripheral neuropathy (stocking-glove sensory loss, absent tendon reflexes, distal limb weakness, and wasting) are the most prominent manifestations. Patients usually die in early adulthood (mean 37.6 years; range 26-58 years). We report a case of an 18-year-old patient with MNGIE. Our patient's abdominal pain was relieved after splanchnic nerve blockade.

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Year:  2006        PMID: 16972839     DOI: 10.1111/j.1460-9592.2006.01918.x

Source DB:  PubMed          Journal:  Paediatr Anaesth        ISSN: 1155-5645            Impact factor:   2.556


  5 in total

Review 1.  CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Authors:  Michio Hirano; Caterina Garone; Catarina M Quinzii
Journal:  Biochim Biophys Acta       Date:  2012-01-18

Review 2.  Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Authors:  Rana Yadak; Peter Sillevis Smitt; Marike W van Gisbergen; Niek P van Til; Irenaeus F M de Coo
Journal:  Front Cell Neurosci       Date:  2017-02-15       Impact factor: 5.505

Review 3.  Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.

Authors:  Dario Pacitti; Michelle Levene; Caterina Garone; Niranjanan Nirmalananthan; Bridget E Bax
Journal:  Front Genet       Date:  2018-12-21       Impact factor: 4.599

Review 4.  Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal.

Authors:  Rana Yadak; Marjolein Breur; Marianna Bugiani
Journal:  Orphanet J Rare Dis       Date:  2019-02-08       Impact factor: 4.123

5.  Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment.

Authors:  Bridget E Bax
Journal:  J Transl Genet Genom       Date:  2020-03-30
  5 in total

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