Homocystinuria differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Homocysteinuria must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteogenesis imperfecta, multiple myeloma, and osteomalacia.

Differential Diagnosis

• Homocysteinuria must be differentiated from other diseases that cause lowering bone mineral density (BMD), such as osteoporosis, scurvy, osteogenesis imperfecta, multiple myeloma, and osteomalacia.

Differential Diagnosis Similar Features Differentiating Features Osteoporosis On physical examination, demonstrates acute musculoskletal pain, if fracture happened On imaging studies, demonstrates severe decrease in BMD - Idiopathic transient osteoporosis of hip On physical examination, demonstrates acute hip pain On imaging studies, demonstrates sub-chondoral cortical loss and diffuse osteopenia of the femoral neck On history, demonstrates mostly involvement of pregnant women and young men On history, demonstrates to be self-limiting in 6-8 months Osteomalacia On physical examination, demonstrates diffuse bone pain, fatigue, and fractures are the common symptoms On imaging studies, demonstrates low bone mineral density (BMD) On imaging studies, demonstrate the brief bone mass loss in bones Scurvy On physical examination, demonstrates bone pain and frequent fractures due to brittle bone On imaging studies, demonstrates low bone mineral density (BMD) On physical examination, demonstrates other mucosal disruption symptoms, such as bleeding gums On imaging studies, demonstrates normal bone mineral density (BMD) Osteogenesis imperfecta On physical examination, demonstrates Short stature, scoliosis, and propensity for fractures On physical examination, demonstrates tooth defects, hearing defects, and blue sclera On laboratory studies, demonstrates near normal bone mineral density (BMD) Multiple myeloma On physical examination, demonstrates diffuse bone pain and tenderness On imaging studies, demonstrates osteolytic lesions in the bones On laboratory studies, demonstrates monoclonal IgM overload in electrophoresis, and also Bence-Jones protein in urine Homocystinuria On physical examination, demonstrates diffuse bone pain and musculoskeletal symptoms On physical examination, demonstrates visual impairment On laboratory studies, demonstrates high amounts of homocysteine in urine