Osteopetrosis - autosomal dominant

Case contributed by Dr Abhinav Amarnath Mohan

Presentation

Sub-optimal growth with chronically ill child with organomegaly. We elicited a clinical history of progressive deafness and blindness.

Patient Data

Age: 2 Years 9 Months
Gender: Male
Modality: X-ray

BWBA = Bone Within Bone Appearance is A classic radiological sign , and common spotter radiograph / case study for discussion in Postgraduate exams .

Case Discussion

Please See Radiopedia /  Refer Diffrential Diagnosis Texts for "pathognomic Radiological sign" of 'Bone with in A Bone Appearance'

In our case who was treated outside as for provisional diagnosis of thalassemia / sickle cell anemia in view of organomegaly and chronic illness and anaemia ;

However on hematological investigations the provisional diagnosis was ruled out and based on classical radio-logical sign and further clinical history & insight ( progressive deafness and blindness) the diagnosis of " Autosomal dominant osteopetrosis "  was suggested and was confirmed later from treating physician/pediatrician .

Take home message : Importance is of not only recognizing "classic radio-logical sign " but eliciting clinical history with correlation of organomegaly and signs and symptoms yields best diagnosis and aid in proper clinical outcomes i.e.  highlights role of Clinical Radiologist

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Case Information

rID: 43195
Case created: 27th Feb 2016
Last edited: 8th Feb 2017
Inclusion in quiz mode: Included

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