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Gaucher disease

Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease.
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Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease.

Clin Cases Miner Bone Metab. 2017 Sep-Dec;14(3):336-339

Authors: Demirci U, Çizmecioglu A, Aydogdu I

Abstract
Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child - osteogenesis imperfecta and he had joint deformities due to skeletal fractures. We wanted to present this case to raise awareness of GD's skeletal involvement and effects of late diagnosis.

PMID: 29354164 [PubMed]

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