Gaucher disease with pathological femoral neck fracture
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Tarih
2013
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Fractures of the femoral neck are rare and usually result from serious and high-energy trauma in the skeleton in young adults. Gaucher's disease (GD) is a lysosomal storage disorder that has progressive course and is rarely seen. Research has shown that a pathological femoral neck fracture with GD mostly emerges in childhood. But in adults, there are no reports of pathological femoral neck fractures with GD. We present a unique case of GD with a pathological femoral neck fracture in a 54-year-old woman who did not undergo surgery because of haematological problems including thrombocytopaenia. Copyright 2013 BMJ Publishing Group. All rights reserved.
Açıklama
Anahtar Kelimeler
Female; Femoral Neck Fractures; Femur Head Necrosis; Fractures, Spontaneous; Gaucher Disease; Humans; Middle Aged; imiglucerase; abdominal pain; adult; article; avascular necrosis; bone marrow biopsy; case report; densitometry; epistaxis; erythrocyte transfusion; female; femur neck fracture; Gaucher disease; gene mutation; genetic screening; hematologic disease; hip pain; human; human cell; human tissue; low back pain; molecular genetics; nuclear magnetic resonance imaging; osteoporosis; pathologic fracture; priority journal; splenomegaly; surgical risk; thrombocyte count; thrombocytopenia; thrombocytopheresis; complication; Femoral Neck Fractures; femur head necrosis; Fractures, Spontaneous; Gaucher disease; middle aged
Kaynak
BMJ Case Reports
WoS Q Değeri
Scopus Q Değeri
Q2
