Skeletal complications in Gaucher’s disease: A case report

Gaucher’s disease is a rare inherited lysosomal storage disease due to a genetic deficiency of an enzyme acid-B-glucosidase. Onset and clinical course is very variable but main features are hepatosplenomegaly, anaemia, thrombocytopenia and many bone features including osteopenia, lytic lesions, pathological fractures, chronic bone pain, acute episodes of excruciating bone crisis, bone infarcts, osteonecrosis, septic arthritis and skeletal deformities. It should be considered in the differential diagnosis of patients who present with unexplained organomegaly, easy bruisability and/or bone pain.