Case 36: X-Ray Chest

Young Boy: Delayed Milestones, Enlarged Spleen

Diagnosis

Osteopetrosis

Discussion

Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden and become dense

Defeciency of carbonic anhydrase in osteoclasts causes reduction in bone resorption while bone formation continues

Brittle bones, recurrent infections, stunted growth and hepato splenomegaly