Diagnostic Dilemma

Recurrent fractures with recurrent infections

A 7 years old boy has had 12 fractures till date which started from 1½ months of age without trauma. He also has had recurrent infections in form of chronic diarrhea, recurrent cough with snoring and elbow infection due to K-wire at 4 years of age, gangrene of left toe at 6 years of age and osteomyelitis of tibia following fracture of tibia at 6½ years of age. He also had breath holding spells in infancy and febrile seizures in early childhood. His birth history, milestones are normal. Investigations show normal hemogram, normal Chest X-Ray and adenoids, HIV negative and normal serum immunoglobulins with normal CD3, CD4 and CD8. He was suspected to have osteogenesis imperfecta with recurrent infections.

What is the likely diagnosis__?
Expert Opinion :
Thanks for the replies. Yes, we are suspecting osteogenesis imperfecta.
Xrays were not suggestive of osteopetrosis.
His NBT test is normal and he does not have any signs of chediak higashi.
Still any thoughts for recurrent infections_?
Answer Discussion :
Chronic granulomatous diseaseplusosteogenesis imperfecta
13 years ago
ameen alica
13 years ago

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