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Tricho‐hepato‐enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality
Author(s) -
Dweikat Imad,
Sultan Mutaz,
Maraqa Nizar,
Hindi Tareq,
AbuRmeileh Sara,
AbuLibdeh Bassam
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31583
Subject(s) - failure to thrive , diarrhea , abnormality , medicine , short bowel syndrome , gastroenterology , hemochromatosis , edema , pathology , parenteral nutrition , psychiatry
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. © 2007 Wiley‐Liss, Inc.