Osteopetrosis - autosomal dominant

Case contributed by Dr Abhinav Amarnath Mohan


Growth delay in a chronically ill child with a clinical history of progressive deafness and blindness, and organomegaly on examination .

Patient Data

Age: 3 years
Gender: Male

Dense bones with a bone within bone appearance. Inverted images show this more clearly. 

Case Discussion

Bone within bone appearance is a classic radiological sign and common spotter radiograph/case study for discussion in postgraduate exams.

In our case the child was treated outside as for provisional diagnosis of thalassemia/sickle cell anemia in view of organomegaly, chronic illness and anaemia.

However, on haematological investigations, the provisional diagnosis was ruled out and based on the classical radiological sign, further clinical history and insight (progressive deafness and blindness) the diagnosis of autosomal dominant osteopetrosis was suggested and was confirmed later by the treating physician/paediatrician.

Take home message: the importance of not only recognising a "classic radiological sign " but eliciting the full clinical history with correlation of signs and symptoms yields the best diagnosis and contributes to a high quality clinical outcome i.e. it emphasises the invaluable role of the clinical radiologist.

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Case information

rID: 43195
Published: 1st Mar 2016
Last edited: 2nd May 2018
Inclusion in quiz mode: Included

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