Gaucher's disease in a patient presenting with hip and abdominal pain
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Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Assoc Medica Brasileira
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Gaucher's disease is characterized by glucocerebroside accumulation in the cells of the reticuloendothelial system. There are three subtypes. The most common is type 1, known as the non-neuropathic form. Pancytopenia, hepatosplenomegaly and bone lesions occur as a result of glucocerebroside accumulation in the liver, lung, spleen and bone marrow in these patients. Findings associated with liver, spleen or bone involvement may be seen at radiological analysis. Improvement in extraskeletal system findings is seen with enzyme replacement therapy. Support therapy is added in patients developing infection, anemia or pain. We describe a case of hepatosplenomegaly, splenic infarction, splenic nodules and femur fracture determined at radiological imaging in a patient under monitoring due to Gaucher's disease.
Açıklama
Anahtar Kelimeler
Gaucher's disease, tomography, sphingolipidoses
Kaynak
Revista Da Associacao Medica Brasileira
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
63
Sayı
12
