Literature DB >> 12352533

Diagnosis and management of MNGIE syndrome in children: case report and review of the literature.

J E Teitelbaum1, C B Berde, S Nurko, C Buonomo, A R Perez-Atayde, V L Fox.   

Abstract

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare disorder that presents in childhood; however, marked delay in diagnosis is common. We report a case and review the literature describing the typical features that should alert pediatricians to the diagnosis. We also describe a novel management strategy for providing symptomatic relief.

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Year:  2002        PMID： 12352533     DOI： 10.1097/00005176-200209000-00029

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


  16 in total

1.  Mitochondrial neuro-gastrointestinal encephalopathy syndrome.

Authors:  Anuj Walia; B R Thapa; V Kim
Journal:  Indian J Pediatr       Date:  2006-12       Impact factor: 1.967

2.  Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

Authors:  W M M Schüpbach; K Madhavi Vadday; A Schaller; C Brekenfeld; L Kappeler; J F Benoist; C Nguyen-Thi Xuan-Huong; J M Burgunder; F Seibold; S Gallati; H P Mattle
Journal:  J Neurol       Date:  2007-02-09       Impact factor: 4.849

Review 3.  Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

Authors:  Ayman W El-Hattab; Fernando Scaglia
Journal:  Neurotherapeutics       Date:  2013-04       Impact factor: 7.620

Review 4.  Evaluation of the child with suspected mitochondrial liver disease.

Authors:  Jean P Molleston; Ronald J Sokol; Wikrom Karnsakul; Alexander Miethke; Simon Horslen; John C Magee; René Romero; Robert H Squires; Johan L K Van Hove
Journal:  J Pediatr Gastroenterol Nutr       Date:  2013-09       Impact factor: 2.839

5.  Volvulus as a complication of chronic intestinal pseudo-obstruction syndrome.

Authors:  Carlijn T de Betue; Doeke Boersma; Matthijs W Oomen; Marc A Benninga; Justin R de Jong
Journal:  Eur J Pediatr       Date:  2011-09-23       Impact factor: 3.183

6.  Anesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy.

Authors:  Vianey Q Casarez; Acsa M Zavala; Pascal Owusu-Agyemang; Katherine Hagan
Journal:  Case Rep Anesthesiol       Date:  2015-06-01

7.  Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome.

Authors:  Jaap A Bakker; Patrick Schlesser; Hubert J M Smeets; Baudouin Francois; Jörgen Bierau
Journal:  J Inherit Metab Dis       Date:  2010-02-12       Impact factor: 4.982

Review 8.  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

9.  Mitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis.

Authors:  V S Chandra; B Sanggetha Lakshmi; S V V Padmavathi Devi; N Praveen; N S Sameera; A S Reddy; R Ram; V S Kumar
Journal:  Indian J Nephrol       Date:  2018 Jul-Aug

Review 10.  Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association.

Authors:  Carlotta Spagnoli; Francesco Pisani; Francesco Di Mario; Gioacchino Leandro; Federica Gaiani; Gian Luigi De' Angelis; Carlo Fusco
Journal:  Acta Biomed       Date:  2018-12-17
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