Diagnosis and Management of MNGIE Syndrome in Children: Case Report and Review of the Literature
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...
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| Veröffentlicht in: | Journal of pediatric gastroenterology and nutrition 2002-09, Vol.35 (3), p.377-383 |
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| container_end_page | 383 |
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| container_issue | 3 |
| container_start_page | 377 |
| container_title | Journal of pediatric gastroenterology and nutrition |
| container_volume | 35 |
| creator | Teitelbaum, J. E. Berde, C. B. Nurko, S. Buonomo, C. Perez‐Atayde, A. R. Fox, V. L. |
| description | 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. |
| doi_str_mv | 10.1002/j.1536-4801.2002.tb07841.x |
| format | Article |
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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.</description><identifier>ISSN: 0277-2116</identifier><identifier>EISSN: 1536-4801</identifier><identifier>DOI: 10.1002/j.1536-4801.2002.tb07841.x</identifier><identifier>PMID: 12352533</identifier><identifier>CODEN: JPGND6</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins, Inc</publisher><subject>Adolescent ; Biological and medical sciences ; Celiac plexus neurolysis ; Child ; Duodenum - diagnostic imaging ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Gastrointestinal Diseases - diagnostic imaging ; Gastrointestinal Diseases - physiopathology ; Gastrointestinal Diseases - therapy ; Humans ; Malformations ; Medical sciences ; Mitochondria ; Mitochondrial Encephalomyopathies - diagnostic imaging ; Mitochondrial Encephalomyopathies - physiopathology ; Mitochondrial Encephalomyopathies - therapy ; Parenteral Nutrition, Total ; Pseudoobstruction ; Stomach - diagnostic imaging ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Tomography, X-Ray Computed ; Ubiquinone - therapeutic use ; Vitamins - therapeutic use</subject><ispartof>Journal of pediatric gastroenterology and nutrition, 2002-09, Vol.35 (3), p.377-383</ispartof><rights>2002 by European Society for European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition</rights><rights>2002 Lippincott Williams & Wilkins, Inc.</rights><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c2979-46493b8380dd07b106a24960475698b48ed5fc65225348a0d1b35aaf5c8fc07f3</citedby><cites>FETCH-LOGICAL-c2979-46493b8380dd07b106a24960475698b48ed5fc65225348a0d1b35aaf5c8fc07f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fj.1536-4801.2002.tb07841.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fj.1536-4801.2002.tb07841.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13925534$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12352533$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Teitelbaum, J. E.</creatorcontrib><creatorcontrib>Berde, C. B.</creatorcontrib><creatorcontrib>Nurko, S.</creatorcontrib><creatorcontrib>Buonomo, C.</creatorcontrib><creatorcontrib>Perez‐Atayde, A. R.</creatorcontrib><creatorcontrib>Fox, V. L.</creatorcontrib><title>Diagnosis and Management of MNGIE Syndrome in Children: Case Report and Review of the Literature</title><title>Journal of pediatric gastroenterology and nutrition</title><addtitle>J Pediatr Gastroenterol Nutr</addtitle><description>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.</description><subject>Adolescent</subject><subject>Biological and medical sciences</subject><subject>Celiac plexus neurolysis</subject><subject>Child</subject><subject>Duodenum - diagnostic imaging</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Gastrointestinal Diseases - diagnostic imaging</subject><subject>Gastrointestinal Diseases - physiopathology</subject><subject>Gastrointestinal Diseases - therapy</subject><subject>Humans</subject><subject>Malformations</subject><subject>Medical sciences</subject><subject>Mitochondria</subject><subject>Mitochondrial Encephalomyopathies - diagnostic imaging</subject><subject>Mitochondrial Encephalomyopathies - physiopathology</subject><subject>Mitochondrial Encephalomyopathies - therapy</subject><subject>Parenteral Nutrition, Total</subject><subject>Pseudoobstruction</subject><subject>Stomach - diagnostic imaging</subject><subject>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</subject><subject>Tomography, X-Ray Computed</subject><subject>Ubiquinone - therapeutic use</subject><subject>Vitamins - therapeutic use</subject><issn>0277-2116</issn><issn>1536-4801</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkUtv1DAURiMEokPhLyALCXYJ16846Q5CW4qmBRVYGye56XjIY7ATpvPvcZiIrllYlu3z-V4fR9ErCgkFYG-3CZU8jUUGNGFhIxlLUJmgyf2jaPXv6HG0AqZUzChNT6Jn3m8BQAkJT6MTyrhkkvNV9OODNXf94K0npq_JtenNHXbYj2RoyPXN5dU5-Xroazd0SGxPio1ta4f9GSmMR3KLu8GNf5O3-Nvifk6NGyRrO6Iz4-TwefSkMa3HF8t8Gn2_OP9WfIzXny-vinfruGK5ymORipyXGc-grkGVFFLDRJ6CUDLNs1JkWMumSiULbYvMQE1LLo1pZJU1FaiGn0Zvjvfu3PBrQj_qzvoK29b0OExeK0aZ4EIG8OwIVm7w3mGjd852xh00BT371Vs9S9SzRD371YtffR_CL5cqU9lh_RBdhAbg9QIYX5m2caavrH_geM5keEHgxJHbD21Q5X-20x6d3qBpx40OPwWSqjSey0MeVnEYLA-xYonZFg__0bn-9OWGv7-gQHnG_wBfsaZZ</recordid><startdate>200209</startdate><enddate>200209</enddate><creator>Teitelbaum, J. E.</creator><creator>Berde, C. B.</creator><creator>Nurko, S.</creator><creator>Buonomo, C.</creator><creator>Perez‐Atayde, A. R.</creator><creator>Fox, V. L.</creator><general>Lippincott Williams & Wilkins, Inc</general><general>Lippincott</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200209</creationdate><title>Diagnosis and Management of MNGIE Syndrome in Children: Case Report and Review of the Literature</title><author>Teitelbaum, J. E. ; Berde, C. B. ; Nurko, S. ; Buonomo, C. ; Perez‐Atayde, A. R. ; Fox, V. L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2979-46493b8380dd07b106a24960475698b48ed5fc65225348a0d1b35aaf5c8fc07f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adolescent</topic><topic>Biological and medical sciences</topic><topic>Celiac plexus neurolysis</topic><topic>Child</topic><topic>Duodenum - diagnostic imaging</topic><topic>Female</topic><topic>Gastroenterology. Liver. Pancreas. Abdomen</topic><topic>Gastrointestinal Diseases - diagnostic imaging</topic><topic>Gastrointestinal Diseases - physiopathology</topic><topic>Gastrointestinal Diseases - therapy</topic><topic>Humans</topic><topic>Malformations</topic><topic>Medical sciences</topic><topic>Mitochondria</topic><topic>Mitochondrial Encephalomyopathies - diagnostic imaging</topic><topic>Mitochondrial Encephalomyopathies - physiopathology</topic><topic>Mitochondrial Encephalomyopathies - therapy</topic><topic>Parenteral Nutrition, Total</topic><topic>Pseudoobstruction</topic><topic>Stomach - diagnostic imaging</topic><topic>Stomach. Duodenum. Small intestine. Colon. Rectum. Anus</topic><topic>Tomography, X-Ray Computed</topic><topic>Ubiquinone - therapeutic use</topic><topic>Vitamins - therapeutic use</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Teitelbaum, J. E.</creatorcontrib><creatorcontrib>Berde, C. B.</creatorcontrib><creatorcontrib>Nurko, S.</creatorcontrib><creatorcontrib>Buonomo, C.</creatorcontrib><creatorcontrib>Perez‐Atayde, A. R.</creatorcontrib><creatorcontrib>Fox, V. L.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of pediatric gastroenterology and nutrition</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Teitelbaum, J. E.</au><au>Berde, C. B.</au><au>Nurko, S.</au><au>Buonomo, C.</au><au>Perez‐Atayde, A. R.</au><au>Fox, V. L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diagnosis and Management of MNGIE Syndrome in Children: Case Report and Review of the Literature</atitle><jtitle>Journal of pediatric gastroenterology and nutrition</jtitle><addtitle>J Pediatr Gastroenterol Nutr</addtitle><date>2002-09</date><risdate>2002</risdate><volume>35</volume><issue>3</issue><spage>377</spage><epage>383</epage><pages>377-383</pages><issn>0277-2116</issn><eissn>1536-4801</eissn><coden>JPGND6</coden><abstract>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.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins, Inc</pub><pmid>12352533</pmid><doi>10.1002/j.1536-4801.2002.tb07841.x</doi><tpages>7</tpages></addata></record> |
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| ispartof | Journal of pediatric gastroenterology and nutrition, 2002-09, Vol.35 (3), p.377-383 |
| issn | 0277-2116 1536-4801 |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete; Access via Wiley Online Library |
| subjects | Adolescent Biological and medical sciences Celiac plexus neurolysis Child Duodenum - diagnostic imaging Female Gastroenterology. Liver. Pancreas. Abdomen Gastrointestinal Diseases - diagnostic imaging Gastrointestinal Diseases - physiopathology Gastrointestinal Diseases - therapy Humans Malformations Medical sciences Mitochondria Mitochondrial Encephalomyopathies - diagnostic imaging Mitochondrial Encephalomyopathies - physiopathology Mitochondrial Encephalomyopathies - therapy Parenteral Nutrition, Total Pseudoobstruction Stomach - diagnostic imaging Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tomography, X-Ray Computed Ubiquinone - therapeutic use Vitamins - therapeutic use |
| title | Diagnosis and Management of MNGIE Syndrome in Children: Case Report and Review of the Literature |
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