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

Ashok Narayan,Saurabh Maheshwari,K Uday Bhanu,Sonam Yangzom,Uddandam Rajesh

doi:10.1055/s-0041-1723956

Ashok Narayan, Saurabh Maheshwari + Show 3 more

Open Access

https://doi.org/10.1055/s-0041-1723956

Copy DOI

Abstract

AbstractVan 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.

Highlights

Van Buchem disease (VBD) is characterized by the increased bone formation and overgrowth of the skeleton
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 is listed as entry # 239100 in Online Mendelian Inheritance in Man (OMIM) database

Summary

Introduction

Van Buchem disease (VBD) is characterized by the increased bone formation and overgrowth of the skeleton. Keywords ► Van Buchem disease ► cranial nerve ► hyperostosis corticalis generalisata 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.

Results

Conclusion