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CC BY 4.0 · Journal of Child Science 2021; 11(01): e38-e41
DOI: 10.1055/s-0041-1723956
Case Report

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

Saurabh Maheshwari 
1   Department of Radiodiagnosis and Imaging, Armed Forces Medical College, Pune, Maharashtra, India
,
Sonam Yangzom
1   Department of Radiodiagnosis and Imaging, Armed Forces Medical College, Pune, Maharashtra, India
,
K. Uday Bhanu 
1   Department of Radiodiagnosis and Imaging, Armed Forces Medical College, Pune, Maharashtra, India
,
Uddandam Rajesh 
1   Department of Radiodiagnosis and Imaging, Armed Forces Medical College, Pune, Maharashtra, India
,
Ashok Narayan
1   Department of Radiodiagnosis and Imaging, Armed Forces Medical College, Pune, Maharashtra, India
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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

Ethics Approval and Consent to Participate

Ethical approval was waived by the local Ethics Committee of Armed Forces Medical College given the retrospective nature of the study and all the procedures being performed were part of the routine care. The patient reported in this article had signed a written informed consent form to participate in the study and have their data published in a journal article under anonymity. This case report was a reporting of a case in a medical educational center, in which all patients are informed that they may be subjects of scientific experiments and are informed of the ethical codes of conduct. This study was in compliance with the latest version of the Helsinki Declaration.


Consent for Publication

The patient had written and signed an informed consent note that the findings may be published without any personal detail.


Availability of Data and Material

All data are available based on a reasonable request.


Authors' Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by S.M., A.N. SH, and U.R. The first draft of the manuscript was written by S.Y. and K.U.B. All authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.


All authors have agreed to both to be personally accountable for their contributions and they have ensured that questions related to the accuracy or integrity of any part of this work, even ones in which they were not personally involved, were appropriately investigated, resolved, and the resolution was documented in the literature.




Publication History

Received: 17 September 2020

Accepted: 15 December 2020

Article published online:
19 February 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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