# A Rare Presentation of Laurence-Moon-Bardet-Biedl Syndrome: Atypical Retinitis Punctata Albescens and Non-alcoholic Fatty Liver Disease

## TL;DR

A 10-year-old girl with Laurence-Moon-Bardet-Biedl syndrome exhibits rare symptoms including atypical eye disease and fatty liver, emphasizing the need for early genetic testing and multidisciplinary care.

## Contribution

Highlights a rare clinical presentation of LMBBS with atypical retinitis and NAFLD, stressing the importance of genetic counseling in consanguineous families.

## Key findings

- The patient displayed atypical retinitis punctata albescens and non-alcoholic fatty liver disease.
- Genetic counseling was crucial for anomaly detection and family planning in a consanguineous marriage.
- Visual impairment remained unchanged despite management, indicating the progressive nature of LMBBS.

## Abstract

This case report emphasizes the varied clinical features of Laurence-Moon-Bardet-Biedl syndrome (LMBBS) in a 10-year-old girl, presenting a rare combination of atypical retinitis punctata albescens, polydactyly, central obesity, and non-alcoholic fatty liver disease (NAFLD). Despite extensive management efforts, the patient's visual impairment remained unchanged, highlighting the challenging and progressive nature of LMBBS, particularly its ocular manifestations. Genetic counseling played a crucial role, stressing the significance of early genetic analysis in consanguineous marriages for anomaly detection and informed family planning. This case enhances our comprehension of LMBBS and emphasizes the necessity for ongoing research and multidisciplinary care to tackle its complexities.