title: Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality.
abstract: 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.
authors.affiliation: Pediatric Department, Metabolic-Genetic Unit, Makassed Hospital, Jerusalem, Israel. imaddweikat@yahoo.ca
authors.forename: Imad
authors.initials: I
authors.lastname: Dweikat
authors.forename: Mutaz
authors.initials: M
authors.lastname: Sultan
authors.forename: Nizar
authors.initials: N
authors.lastname: Maraqa
authors.forename: Tareq
authors.initials: T
authors.lastname: Hindi
authors.forename: Sara
authors.initials: S
authors.lastname: Abu-Rmeileh
authors.forename: Bassam
authors.initials: B
authors.lastname: Abu-Libdeh
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D003968:Diarrhea, Infantile / Q000473:pathology*; D005145:Face / Q000002:abnormalities; D017809:Fatal Outcome; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006432:Hemochromatosis / Q000473:pathology; D006801:Humans; D007223:Infant; D007501:Iron / Q000378:metabolism; D007621:Karyotyping; D008107:Liver Diseases / Q000378:metabolism / Q000473:pathology*; D013577:Syndrome
chemical_list: D007501:Iron