Van Buchem disease: a rare case report

Authors

  • Anuradha Sanadhya Department of Pediatrics, RNTMC, Udaipur, Rajasthan, India
  • Akanksha Sharma Department of Pediatrics, RNTMC, Udaipur, Rajasthan, India
  • Aishwarya Sindhur Department of Pediatrics, RNTMC, Udaipur, Rajasthan, India
  • Vivek Arora Department of Pediatrics, RNTMC, Udaipur, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20233247

Keywords:

Van Buchem disease, Hyperosteosis, Autosomal recessive, Dysmorphic facies

Abstract

Van Buchem disease, or hyperostosis corticalis generalisata, is a autosomal recessive skeletal disease which is characterized by uninhibited bone growth, especially in mandible, skull and ribs. It is a rare disorder that causes a compromised inhibitory feedback mechanism resulting in increased bone formation and overgrowth of skeleton leading to a variety of neurological symptoms. We are reporting a case of 15-year-old female child presented with short stature and dysmorphic facies along with progressive vision loss since 3-4 years.

 

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References

Wergedal JE, Veskovic K, Hellan M, Nyght C, Balemans W, Libanati C, et al. Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal. J Clin Endocrinol Metabolism. 2003;88(12):5778-83.

Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, et al. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. Am J Human Genet. 1998;62(2):391-9.

Hofmeyr LM, Hamersma H. Sclerosing bone dysplasias: neurologic assessment and management. Curr Opinion Otolaryngol Head Neck Surg. 2004;12(5):393-7.

Dixon JM, Cull RE, Gamble P. Two cases of Van Buchem's disease. J Neurol Neurosurg Psychiatry. 1982;45(10):913-8.

Wallace SE, Wilcox WR. Camurati-engelmann disease. GeneReviews®[Internet]. 2023.

Van Hul W, Bollerslev J, Gram J, Van Hul E, Wuyts W, Benichou O, et al. Localization of a gene for autosomal dominant osteopetrosis (Albers-Schönberg disease) to chromosome 1p21. Am J Human Genet. 1997;61(2):363-9.

Maheshwari S, Yangzom S, Bhanu KU, Rajesh U, Narayan A. Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation. J Child Sci. 2021;11(01):e38-41.

Upadhyay N, Das S, Ghosh A, Dhibar T. Van Buchem disease: A rare sclerosing dysplasia. Indian J Musculoskelet Radiol. 2022;4:124-7.

Datema M, Appelman-Dijkstra NM, Hoyng SA, Verstegen MJ, Koot RW. Decompressive surgery in a patient with hyperostosis corticalis generalisata for relief of cognitive disability and dysaesthesia. Acta Neurochirurgica. 2015;157:1215-9.

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Published

2023-10-26

How to Cite

Sanadhya, A., Sharma, A., Sindhur, A., & Arora, V. (2023). Van Buchem disease: a rare case report. International Journal of Contemporary Pediatrics, 10(11), 1733–1735. https://doi.org/10.18203/2349-3291.ijcp20233247

Issue

Section

Case Reports