Spot Diagnosis

Osteopetrosis



Question :
This child presented with hepatosplenomegaly and pallor requiring blood transfusion. He has right LMN facial palsy with right lateral rectus palsy.



What is the diagnosis?

Discussion :
Osteopetrosis is a clinical syndrome characterized by the failure of osteoclasts to resorb bone. As a consequence, bone modeling and remodeling are impaired. The defect in bone turnover characteristically results in skeletal fragility despite increased bone mass, and it may also cause hematopoietic insufficiency leading to extramedullay hematopoiesis and anemia, nerve entrapment syndromes leading to cranial nerve palsies and growth impairment.

Correct Answers : yes  13%

Last Shown : Jun 2008
 
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