Osteopetrosis: A New Cause of Upper Gastrointestinal Bleeding

Osteopetrosis is a genetic disorder of bone remodeling caused by osteoclast dysfunction. Clinical features include short stature, frequent fractures, and recurrent infections. Abnormal bone obliterates the marrow cavity, resulting pancytopenia and extramedullary hematopoiesis in the liver and spleen...

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Bibliographic Details
Published inACG case reports journal Vol. 2; no. 1; pp. 45 - 47
Main Authors Katz, Kristina N, Shafqet, Muhammad A, Rampertab, S Devi, Pooran, Nakechand
Format Journal Article
LanguageEnglish
Published United States American College of Gastroenterology 01.10.2014
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Case Report
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Summary:Osteopetrosis is a genetic disorder of bone remodeling caused by osteoclast dysfunction. Clinical features include short stature, frequent fractures, and recurrent infections. Abnormal bone obliterates the marrow cavity, resulting pancytopenia and extramedullary hematopoiesis in the liver and spleen. The splenomegaly can lead to left-sided portal hypertension. We report the second case of osteopetrosis-induced portal hypertension and the first case of upper gastrointestinal bleeding in a 52-year-old woman with osteopetrosis.
ISSN:2326-3253
2326-3253
DOI:10.14309/crj.2014.80