Document Detail

Paralytic ileus in MELAS with phenotypic features of MNGIE.
MedLine Citation:
PMID:  15519124     Owner:  NLM     Status:  MEDLINE    
This report describes a child having the syndrome of overlapping phenotypic features of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Mitochondrial DNA analysis revealed a point mutation at position A3243G, whereas activity of thymidine phosphorylase and its corresponding gene analysis were normal. The most striking feature of this case was paralysis of one segment of the terminal ileum observed on laparotomy. The electron microscopic findings of the resected ileum and colon by limited right hemicolectomy disclosed accumulation of numerous enlarged mitochondria with ill-defined cristae which were similar to mitochondria reported in three previous MELAS cases and one MNGIE case with intestinal dysmotility. We emphasize that the MELAS and MNGIE phenotypes overlapped in this case and that the mechanism of acute ileus in MELAS was associated with functional paralysis of the intestine.
Tung-Ming Chang; Ching-Shiang Chi; Chi-Ren Tsai; Hsiu-Fen Lee; Mu-Chun Li
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric neurology     Volume:  31     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-11-02     Completed Date:  2005-01-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  374-7     Citation Subset:  IM    
Department of Pediatric Neurology, Taichung Veterans General Hospital, Taichung, Taiwan, ROC.
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MeSH Terms
Acute Disease
Brain / pathology
Intestinal Pseudo-Obstruction / etiology*,  pathology*
Intestine, Small / pathology
MELAS Syndrome / complications*,  genetics,  pathology*
Magnetic Resonance Imaging
Mitochondria / pathology
Point Mutation
Comment In:
Pediatr Neurol. 2005 Aug;33(2):151   [PMID:  16087066 ]

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