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[Lawrence Moon Biedl Bardet, a polymorphic syndrome].

C Faraci, A Galmozzi, E Sesini

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics

|July 1, 1984

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Laurence-Moon-Biedl-Bardet syndrome, a rare genetic disorder, presents with varied symptoms including obesity and vision loss. This study details two cases, highlighting hormonal imbalances and neurological findings in Bardet-Biedl syndrome patients.

Area of Science:

Genetics
Endocrinology
Neurology

Background:

Laurence-Moon-Biedl-Bardet syndrome (BBS) is a complex genetic disorder with poorly understood origins.
It is characterized by a constellation of symptoms including obesity, intellectual disability, polydactyly, retinitis pigmentosa, and hypogonadism.

Observation:

This report presents two distinct cases of BBS, examining their clinical presentations.
Detailed analysis included objective symptomatology, instrumental evaluations, and laboratory parameters focusing on hormonal, metabolic, and organ function.

Findings:

Both cases exhibited classic BBS features.
Case 1 showed Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) deficits, right-dominant lateral ventricle asymmetry, and elevated urinary 17-ketosteroids (17-KS) and 17-hydroxycorticosteroids (17-OH-KS).

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Case 2 presented with an electroencephalogram (EEG) indicative of epilepsy.

Implications:

These findings contribute to understanding the diverse clinical spectrum and potential neurological and endocrine manifestations of BBS.
Further research into BBS pathogenesis is warranted to elucidate the underlying mechanisms.
Detailed case studies like these are crucial for improving diagnosis and management strategies for Bardet-Biedl syndrome.