| Autor: |
Erika Poggiali, Isabella Nava, Marianna Giuditta, Lorena Duca, Elena Cassinerio |
| Jazyk: |
angličtina |
| Rok vydání: |
2014 |
| Předmět: |
|
| Zdroj: |
European Journal of Case Reports in Internal Medicine, Vol 1, Iss 1 (2014) |
| Druh dokumentu: |
article |
| ISSN: |
2284-2594 |
| DOI: |
10.12890/2014_000121 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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