Poggiali, Erika and Nava, Isabella and Giuditta, Marianna and Duca, Lorena and Cassinerio, Elena (2014) An Intriguing Case of Anaemia and Splenomegaly. European Journal of Case Reports in Internal Medicine, 1 (1). pp. 1-5. ISSN 2284-2594
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Abstract
Objectives: Thrombocytopenia and splenomegaly are common features in several haematological disorders. Gaucher disease (GD) is a rare lysosomal storage disorder frequently characterized by thrombocytopenia and splenomegaly, which represents a clinical challenge for haematologists and internists. Case: We describe the case of a 37-year-old patient with a diagnosis of spherocytosis since childhood, who developed hepatic failure and presented striking features of GD including hepatosplenomegaly, bone fractures and post-partum bleeding. We reconsidered the diagnosis of spherocytosis and investigated Gaucher disease. Conclusion: GD should be considered in the differential diagnosis of thrombocytopenia and splenomegaly.
| Item Type: | Article |
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| Uncontrolled Keywords: | Spherocytosis, Gaucher disease, splenomegaly, lysosomal disorder, thrombocytopenia |
| Subjects: | 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Chiara D'Arpa |
| Date Deposited: | 07 Sep 2016 15:20 |
| Last Modified: | 07 Sep 2016 15:20 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/14945 |
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