Adult diffuse osteopetrosis masquerading as right hip osteoa
Adult onset osteopetrosis is rare, but given its diffuse nature, high risk of future fractures with need of surgical intervention, and higher percentage of post-operative complications, it should be considered in patients presenting with diffuse bone disease. The present case has been reported in the

A 41-year-old female came with right hip pain for one month, previously diagnosed at outside hospital as osteoarthritis. Patient had no history of fracture, bone pain, or trauma-related injuries. X-rays, magnetic resonance imaging and bone scans were taken of the right femur, hip, and lumbar spine which demonstrated diffuse abnormal bone sclerosis with cortical thickening.

A complete spine X-ray revealed the classic rugger-jersey appearance consistent with osteopetrosis in the setting of normal parathyroid hormone ruling out hyperparathyroidism. A whole body bone scan showing the diffuse process of her disease with abnormally increased uptake in almost all her bones especially at the ends of long bones.

Laboratory examination of the patient showed alkaline phosphatase 90 IU/L, vitamin D25 18.7 ng/ml, calcium 8.5 mg/dl, ionized calcium 4.5 mg/dl, PTH 42 pg/ml, protein 7.6 g/dl, albumin 4.2 g/dl, CA 15-3 (<8 U/ml), CA27-29 (<12 U/ml), CEA (1.3 ng/ml). Given that her parathyroid harmone (PTH) was not elevated and she had low-normal calcium, hyperparathyroidism was unlikely.

Her normal alkaline phosphatase and mildly low vitamin D25 also made osteomalacia unlikely. Serum markers of Acid Phosphatase Prostatic, CA 27-29, CA 15-3, and CEA were negative ruling out malignancy. The diagnosis of osteopetrosis was made.

Although this patient presented with localized pain in her right hip, imaging found that her disease was diffuse and extensive. The patient was seen in hospital by orthopedic surgery who recommended outpatient total right hip replacement given the severity of bone changes and uncontrolled pain. Patient was discharged on an oxycontin taper with percocet as needed as well with osteopetrosis require special considerations and close outpatient follow-up.

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