Bardet-Biedl Syndrome: Early Signs, Laurence-Moon Differentiation, and Associated Conditions

The Bardet-Biedl syndrome (BBS) is an autosomal recessive genetic disorder characterized by a range of clinical manifestations, including polydactyly, retinitis pigmentosa, obesity, renal anomalies, and gonadal dysfunction. Historically, BBS was grouped with Laurence-Moon syndrome; however, it is now considered a separate entity due to significant clinical and genetic differences.

Early Signs and Clinical Manifestations

Early diagnosis of Bardet-Biedl syndrome is crucial for the appropriate management of its complications. Early signs may include polydactyly and developmental anomalies, such as speech delays and learning difficulties. Retinitis pigmentosa typically develops in childhood or adolescence, leading to progressive vision loss. Additionally, central obesity is common and may be associated with metabolic syndrome, increasing the risk of cardiovascular diseases and type 2 diabetes.

A study reviewed three cases of BBS diagnosed after the age of fifty, highlighting the variability in symptom expression and severity within the same family. These cases also presented with metabolic syndrome, underscoring the importance of early diagnosis to prevent additional complications [1].

Laurence-Moon Differentiation

Differentiating between Bardet-Biedl syndrome and Laurence-Moon syndrome is essential for accurate diagnosis. Although both share features such as retinitis pigmentosa and obesity, Laurence-Moon syndrome is more frequently associated with spastic paraplegia and does not present with polydactyly. Electroretinographic (ERG) evaluation can be useful for differential diagnosis, as ERG alterations vary among different syndromes [2].

Conclusions

Bardet-Biedl syndrome is a complex condition that requires a multidisciplinary approach for management. Early identification of signs and symptoms, along with proper differentiation from Laurence-Moon syndrome, is fundamental to improving prognosis and quality of life for patients. Collaboration among ophthalmologists, endocrinologists, and nephrologists is crucial to address associated complications, such as early blindness, metabolic syndrome, and renal failure.

Referencias

• [1] A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.
• [2] Syndromic retinitis pigmentosa: ERG and phenotypic changes.

Created 13/1/2025