Albers-Schonberg disease

Clinical Cases 12.05.2006
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Section: Musculoskeletal system
Case Type: Clinical Cases
Patient: 38 years, male
Authors: Chee Y, Sabnis B
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Details
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AI Report

Clinical History

Painful left knee with incidental radiographic findings

Imaging Findings

This patient was referred to the orthopaedic team for pain in his left knee. On his plain knee radiographs, there was suspicion of increased bone density with bone in bone appearance in the distal femur. Further radiographs were taken of his skull, vertebrae, and pelvis. These showed the typical characteristics of osteopetrosis. His knee symptoms were later found to be due to a meniscal tear and treated by arthroscopic resection. He did not have other symptoms associated with the condition. Following referral for genetic counseling, his sister was found to have the same condition.

Discussion

Osteopetrosis is a rare sclerosing inherited dysplasia of bone caused by deficient function of osteoclasts. Two forms are recognized, the aggressive infantile autosomal recessive form and the adult autosomal dominant osteopetrosis tarda form. The latter is known as Albers-Schonberg disease described by a German radiologist, Heinrich Albers-Schonberg in 1904. Osteopetrosis tarda is inherited via a gene 1p21. The clinical features are usually due to increased bone mass that obstructs osseus foramina, resulting in cranial-nerve palsies, skeletal deformities and multiple fractures . The classical radiographic features are an increase in generalized bone density, bone in bone appearance, rugger jersey spine, thickened skull base and tranverse bands in metaphysis. Treatment by bone marrow transplant, erythropoietin and gamma interferon have been used in the infantile form. Adult osteopetrosis requires no treatment, except for complications of the disease.

Differential Diagnosis List

Albers-Schonberg disease (Osteopetrosis tarda)

Final Diagnosis

Albers-Schonberg disease (Osteopetrosis tarda)

Liscense

Figures

AP knee radiograph

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AP knee radiograph

Lateral knee radiograph

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Lateral knee radiograph

Lateral skull radiograph

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Lateral skull radiograph

Lateral lumbar spine radiograph

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Lateral lumbar spine radiograph

AP pelvic radiograph

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AP pelvic radiograph