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Rare Case of Laurence-Moon-Bardet-Biedl Syndrome With Pulmonary Hypertension: A Case Report

Areeba Mariam Mehmood1, S M Salman Hassan2, Ayesha Malik2

  • 1Sargodha Medical College, University of Sargodha Sargodha Pakistan.

Clinical Case Reports
|July 31, 2025
PubMed

Insights

Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) is a complex genetic disorder with severe outcomes like pulmonary hypertension. Early diagnosis and comprehensive care are vital, though survival remains limited for severely affected individuals.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) is a rare, inherited ciliopathy.
  • It presents with a wide spectrum of clinical features, including obesity, intellectual disability, retinal dystrophy, and polydactyly.
  • Lethal complications, such as pulmonary hypertension, significantly impact prognosis.

Purpose of the Study:

  • To highlight the critical nature of pulmonary hypertension in LMBBS.
  • To emphasize the importance of early recognition and multidisciplinary management.
  • To discuss the challenges in long-term survival for patients with poor functional status.

Main Methods:

  • This is a review based on existing literature and clinical observations.
  • Analysis of reported cases focusing on manifestations and outcomes.
  • Synthesis of current understanding of LMBBS pathophysiology and clinical management.

Main Results:

  • Pulmonary hypertension is a frequent and often fatal complication in LMBBS.
  • Patients with poor functional status and progressive health decline exhibit significantly shorter survival.
  • Comprehensive medical and psychological support is essential for affected families.

Conclusions:

  • Early identification and management of LMBBS, particularly its cardiovascular manifestations like pulmonary hypertension, are crucial.
  • Multidisciplinary care, including psychological support, is vital for improving quality of life.
  • Prognosis is heavily influenced by the severity of health impairment and functional status.

Keywords:
Laurence–Moon–Bardet–Biedl syndromeciliopathymental retardationmetabolic abnormalitiespulmonary hypertension

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