iron storage disease

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Tricho-Hepato-Enteric Syndrome: a Case of Hemochromatosis With Intractable Diarrhea, Dysmorphic Features, and Hair Abnormality

Journal Title, Volume, Page: 
American Journal of Medical Genetics Part A Volume 143A, Issue 6, pages 581–583, 15 March 2007
Year of Publication: 
2007
Authors: 
Imad Dweikat
Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem
Current Affiliation: 
Department of Medicine, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, Palestin
Mutaz Sultan
Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem
Nizar Maraqa
Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem
Tareq Hindi
Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem
Sara Abu-Rmeileh
Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem
Bassam Abu-Libdeh
Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem
Preferred Abstract (Original): 

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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