| Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality. | |
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MedLine Citation:
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PMID: 17236206 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a female infant with congenital iron storage disease, facial dysmorphism, intractable diarrhea, and hair abnormalities. The intractable diarrhea failed to resolve despite total parenteral nutrition and complete bowel rest for more than 3 weeks. The patient also had elevated liver enzymes and failure to thrive. Histopathologic examination of the liver revealed marked iron deposits in hepatocytes with portal edema, fibrosis, and septal formation. No metabolic abnormalities could be detected. She died at the age of 10 months. We suggest that this case could have a specific iron storage syndrome that is similar to the two sibs reported by Stankler et al. [1982; Arch Dis Child 57:212-216] and Verloes et al. [1997; Am J Med Genet 68:391-395]. The condition was called the tricho-hepato-enteric (THE) syndrome. |
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Authors:
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Imad Dweikat; Mutaz Sultan; Nizar Maraqa; Tareq Hindi; Sara Abu-Rmeileh; Bassam Abu-Libdeh |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 143 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2007 Mar |
Date Detail:
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Created Date: 2007-02-28 Completed Date: 2007-05-08 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 581-3 Citation Subset: IM |
Copyright Information:
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(c) 2007 Wiley-Liss, Inc. |
Affiliation:
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Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem, Israel. imaddweikat@yahoo.ca |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology* Diagnosis, Differential Diarrhea, Infantile / pathology* Face / abnormalities Fatal Outcome Female Hair / abnormalities* Hemochromatosis / pathology Humans Infant Iron / metabolism Karyotyping Liver Diseases / metabolism, pathology* Syndrome |
| Chemical | |
Reg. No./Substance:
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7439-89-6/Iron |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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