Osteopetrosis

Case contributed by Pir Abdul Ahad Aziz Qureshi

Presentation

Bone and abdominal pain. Splenomegaly on ultrasound.

Patient Data

Age: 7 years
Gender: Female
x-ray

Diffuse bone sclerosis with bone within bone appearance, alternating dense and lucent lines in the metadiaphysis and Erlenmeyer flask deformity of the tubular bones and sandwich vertebra appearance. Findings are consistent with osteopetrosis.

Case Discussion

Osteopetrosis is a rare hereditary disorder resulting from defective osteoclasts causing structurally abnormal bones which are weak and brittle. There are two subtypes of osteopetrosis which have distinct radiological features: 

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