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