Osteopetrosis

Case contributed by Dr Nauman Akram

Presentation

Bone pain and anaemia.

Patient Data

Age: Young
Gender: Male
X-ray

There is diffuse sclerosis of the distal radius, ulna, carpal bones, metacarpals and all phalanges. No fracture noted.

Case Discussion

Osteopetrosis is also called Albers-Schonberg disease. This is a rare disease due to defective osteoclastic activity. It has two varieties, infantile autosomal recessive and benign adult autosomal dominant variety. The patient can present with fracture or anaemia when there is a compromise of bone marrow.

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Case information

rID: 54469
Case created: 10th Jul 2017
Last edited: 13th Jul 2017
Inclusion in quiz mode: Included

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