Document Detail

Neonatal hemochromatosis: a case report with unique presentation.
MedLine Citation:
PMID:  21980852     Owner:  NLM     Status:  In-Process    
Acute liver failure (ALF) is a relatively rare condition in neonates, and early diagnosis and treatment are crucial for the treatable conditions. Neonatal hemochromatosis (NH) is a rare clinical condition that is clinically defined as severe neonatal liver disease associated with hepatic and extrahepatic iron deposition in a distribution similar to that seen in hereditary hemochromatosis. Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome. Despite aggressive treatment, some patients may require liver transplantation. We report a five-day-old male infant with NH and associated Duarte variant galactosemia, renal tubulopathy and hypertyrosinemia, who was successfully treated with combination medical treatment. Combination therapy may reduce the need for liver transplantation in infants with NH. Early diagnosis and aggressive treatment are important as in galactosemia or tyrosinemia for the outcome. Thus, NH may be listed as a treatable cause of ALF in neonates.
Murat Cakir; Mehmet Mutlu; Sevdegül Aydin-Mungan; Ayşegül Cansu; Yakup Aslan; Erol Erduran
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  53     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2011 Jul-Aug
Date Detail:
Created Date:  2011-10-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  455-9     Citation Subset:  IM    
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
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