Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation

Abstract Van Buchem disease is a rare autosomal recessive genetic disorder that causes compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of the skeleton leading to variety neurological symptoms. It has been reported less than 50 patients most which were western Europe. We report first case this condition from Indian subcontinent with an early presentation. This patient presented global delay attaining developmental milestones progressive reduction visual acuity loss hearing. He had dysmorphic facies, multiple cranial nerve palsies, severe auditory deficits. Imaging revealed sclerosing dysplasia. illustrates clinical imaging findings condition.