Van Buchem Disease: First Case Report from the Indian Subcontinent with an Early Presentation
| Autor: | K. Uday Bhanu, Ashok Narayan, Sonam Yangzom, Saurabh Maheshwari, Uddandam Rajesh |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty Visual acuity VAN BUCHEM DISEASE business.industry Genetic disorder medicine.disease Indian subcontinent Dysplasia Pediatrics Perinatology and Child Health Developmental Milestone medicine Surgery Presentation (obstetrics) medicine.symptom business Increased bone formation |
| Zdroj: | Journal of Child Science. 11:e38-e41 |
| ISSN: | 2474-5871 |
| DOI: | 10.1055/s-0041-1723956 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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