Bardet-Biedl Syndrome: A Case Study

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  • February 27, 2019
Creator
  • Fracchia, Caitlin
    • Affiliation: Gillings School of Global Public Health, Department of Nutrition
Abstract
  • It is frequently difficult to find an optimal nutritional treatment for children who have rare genetic conditions with multisystem abnormalities because of the complexity of symptoms and the lack of evidence based treatments. Bardet-Biedl Syndrome is an example of one of these conditions. Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive condition that is characterized by polydactyly, rod-conedystrophy, obesity, and Developmental delay (Forsythe & Beales, 2013). Obesity is a significant obstacle for medical professionals when working with these patients. Patients with Bardet-Biedl Syndrome have lower energy expenditure and leptin sensitivity causing them to have rapid weight gain even with caloric restrictions (Rahmouni et al., 2008). Obesity and other clinical manifestations suggestive of Bardet-Biedl Syndrome were observed with one patient at an area hospital, and the registered dietitian was called upon to determine how best to manage her nutrition.
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  • In Copyright
Degree
  • Master of Public Health
Degree granting institution
  • University of North Carolina at Chapel Hill
Graduation year
  • 2015
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  • ec6acc1f-dd30-446a-a923-ede8671f2c72

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