| Paralytic ileus in MELAS with phenotypic features of MNGIE. | |
| | |
MedLine Citation:
|
PMID: 15519124 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Tung-Ming Chang; Ching-Shiang Chi; Chi-Ren Tsai; Hsiu-Fen Lee; Mu-Chun Li |
Related Documents
:
|
12836874 - A multidisciplinary approach to describe protists: redescriptions of novistrombidium te... 3944574 - Trace evidence--the invisible witness. 22216384 - Soft tissue chondroma: a case report and literature review. 729824 - Hysterosalpingography in the evaluation of infertility: a six-year review. 12836874 - A multidisciplinary approach to describe protists: redescriptions of novistrombidium te... 19039894 - A case of aspergillus fumigatus mediastinitis after heart surgery in madani heart cente... |
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 |
Affiliation:
|
Department of Pediatric Neurology, Taichung Veterans General Hospital, Taichung, Taiwan, ROC. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acute Disease Adolescent Brain / pathology Humans Intestinal Pseudo-Obstruction / etiology*, pathology* Intestine, Small / pathology MELAS Syndrome / complications*, genetics, pathology* Magnetic Resonance Imaging Male Mitochondria / pathology Phenotype Point Mutation |
| Comments/Corrections | |
Comment In:
|
Pediatr Neurol. 2005 Aug;33(2):151
[PMID:
16087066
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A case of X-linked agammaglobulinemia with progressive encephalitis.
Next Document: Carbamazepine pharmacokinetics are not affected by zonisamide: in vitro mechanistic study and in viv...