Painful left knee with incidental radiographic 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.
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.
Albers-Schonberg disease (Osteopetrosis tarda)
Based on the provided X-ray images, the following key features are observed:
Overall, there is a widespread, highly sclerotic bone pattern, and local “bone-in-bone” signs suggest limited bone remodeling or resorption.
Considering the patient’s age (38 years), the complaint of left knee pain, and the generalized high-density bone findings on imaging, possible diagnoses or differentials include:
Taking into account the imaging findings, symptoms, patient’s age, and relevant literature, the most likely diagnosis is:
Adult Osteopetrosis (Osteopetrosis tarda / Albers-Schönberg disease).
In adults, osteopetrosis typically presents with milder symptoms and is often discovered incidentally during examinations for other reasons. This patient’s primary complaint of knee pain may be related to localized bone changes or mechanical alignment. Other systemic complications such as nerve compression or fractures are not evident at this time but require regular follow-up for monitoring.
In most adult osteopetrosis cases, specialized treatment is not required, but attention should be given to potential complications and maintaining bone health. Recommendations include:
Following the FITT-VP principle (Frequency, Intensity, Type, Time, Progression, Volume) and adapting to individual tolerance:
If significant pain, swelling, or discomfort arises during any training, exercise should be discontinued and a medical evaluation conducted. If higher-intensity or specialized equipment training is necessary, it should be undertaken gradually under the guidance of a professional rehabilitation therapist or sports medicine specialist.
Disclaimer: This report is a reference-based medical analysis derived from the provided medical history and imaging data. It does not replace in-person consultation or professional medical advice. Specific treatment plans should be determined by the patient’s attending physician, considering clinical evaluations, laboratory results, and additional diagnostic tests.
Albers-Schonberg disease (Osteopetrosis tarda)