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[Bardet Biedl syndrome: a case report].

Nuria Grimberg¹, María E Andres², Mabel Ferraro²

¹Servicio de Nutrición y Diabetes, Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires, Argentina. nugrimberg@yahoo.com.ar.

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|November 14, 2022

Summary

Bardet-Biedl syndrome (BBS) is a genetic disorder affecting multiple body systems. This case study identifies two pathogenic variants in the BBS2 gene, contributing to the syndrome in a young patient.

Keywords:

Bardet Biedl syndrome obesity

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Area of Science:

Genetics
Medical Genetics
Rare Diseases

Background:

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy.
It is a pleiotropic disorder characterized by retinal dystrophy, renal dysfunction, polydactyly, obesity, cognitive deficit, and hypogenitalism.

Observation:

A 13-year-old female presented with obesity, hyperphagia, type 2 diabetes, hypothyroidism, polydactyly, cognitive deficit, and visual impairment.
Clinical diagnosis of BBS was suspected based on the constellation of symptoms.

Findings:

Molecular genetic testing using a multigenic panel was performed.
Two heterozygous pathogenic variants in the BBS2 gene were identified as the cause of BBS in this patient.

Implications:

This case highlights the importance of molecular genetic testing for BBS diagnosis.
Identifying specific gene variants like those in BBS2 can aid in understanding disease mechanisms and potentially guide future therapeutic strategies.
A multidisciplinary approach is crucial for managing the complex symptoms of BBS.