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

**Authors:** Areeba Mariam Mehmood, S. M. Salman Hassan, Ayesha Malik, Muhammad Faizan, Muhammad Usama bin Shabbir, Aqsa Jabeen, Allahdad Khan, Aseel Kamal

PMC · DOI: 10.1002/ccr3.70691 · Clinical Case Reports · 2025-07-29

## TL;DR

This case report describes a rare instance of Laurence–Moon–Bardet–Biedl Syndrome complicated by pulmonary hypertension, highlighting the importance of early diagnosis and treatment.

## Contribution

The novelty lies in presenting a rare case with lethal pulmonary hypertension manifestation and emphasizing the need for early intervention.

## Key findings

- Laurence–Moon–Bardet–Biedl Syndrome can present with severe complications like pulmonary hypertension.
- Early recognition and comprehensive treatment are crucial for managing the condition.
- Poor functional status and worsening health often lead to short survival.

## Abstract

Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but survival is usually short in those with a poor functional status and increasingly impaired health.

## Linked entities

- **Diseases:** pulmonary hypertension (MONDO:0005149)

## Full-text entities

- **Genes:** BBS1 (Bardet-Biedl syndrome 1) [NCBI Gene 582] {aka BBS2L2}, IFT172 (intraflagellar transport 172) [NCBI Gene 26160] {aka BBS20, NPHP17, RP71, SLB, SRTD10, osm-1}, SCAPER (S-phase cyclin A associated protein in the ER) [NCBI Gene 49855] {aka IDDRP, MSTP063, ZNF291, Zfp291}, NPHP1 (nephrocystin 1) [NCBI Gene 4867] {aka JBTS4, NPH1, SLSN1}, BBS10 (Bardet-Biedl syndrome 10) [NCBI Gene 79738] {aka C12orf58}, CRP (C-reactive protein) [NCBI Gene 1401] {aka PTX1}, CEP19 (centrosomal protein 19) [NCBI Gene 84984] {aka C3orf34, MOSPGF}, SCLT1 (sodium channel and clathrin linker 1) [NCBI Gene 132320] {aka CAP-1A, CAP1A}
- **Diseases:** Renal abnormalities (MESH:D007674), systemic disorder (MESH:D009422), moon facies (MESH:D019066), ataxia (MESH:D001259), cognitive dysfunction (MESH:D003072), renal anomalies (MESH:C535986), vision deterioration (MESH:D014786), retinal dystrophy (MESH:D058499), Prader-Willi Syndrome (MESH:D011218), BBS (MESH:D020788), LMS (MESH:D007849), diabetes mellitus (MESH:D003920), edema (MESH:D004487), anosmia (MESH:D000857), pigmentary degeneration (MESH:D006211), speech delay (MESH:D007805), Usher syndrome (MESH:D052245), metabolic abnormalities (MESH:D008659), tachypnea (MESH:D059246), dystrophy of rods and cones (MESH:D000071700), tricuspid regurgitation (MESH:D014262), dyspnea (MESH:D004417), McKusick-Kaufman syndrome (MESH:C538159), Polydactyly (MESH:D017689), thrush (MESH:D002180), inflammation (MESH:D007249), skeletal abnormalities (MESH:D009139), brachydactyly (MESH:D059327), respiratory distress (MESH:D012128), spasticity (MESH:D009128), atrophy (MESH:D001284), type 2 diabetes (MESH:D003924), chronic renal disease (MESH:D051436), mitral regurgitation (MESH:D008944), syndactyly (MESH:D013576), cardiac decompensation (MESH:D006333), Pulmonary Hypertension (MESH:D006976), autosomal recessive disorder (MESH:D030342), ciliopathies (MESH:D000072661), polyuria (MESH:D011141), pulmonary edema (MESH:D011654), chest pain (MESH:D002637), Obesity (MESH:D009765), congenital heart disease (MESH:D006330), Abdominal obesity (MESH:D056128), dental abnormalities (MESH:D014071), cyanosis (MESH:D003490), developmental delay (MESH:D002658), intellectual disability (MESH:D008607), pericardial effusion (MESH:D010490), hypertension (MESH:D006973), hepatomegaly (MESH:D006529), Alstrom syndrome (MESH:D056769), dry cough (MESH:D003371), biventricular apical hypertrophy (MESH:D006984), pulmonary regurgitation (MESH:D011665), flank pain (MESH:D021501), Senior-Loken syndrome (MESH:C537580), calyceal cysts (MESH:D003560), developmental abnormalities (MESH:D006130)
- **Chemicals:** furosemide (MESH:D005665), cefuroxime (MESH:D002444), Creatinine (MESH:D003404), Urea (MESH:D014508), hydrocortisone (MESH:D006854), levofloxacin (MESH:D064704), prostacyclin (MESH:D011464), spironolactone (MESH:D013148), ipratropium bromide (MESH:D009241)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12307231/full.md

## References

15 references — full list in the complete paper: https://tomesphere.com/paper/PMC12307231/full.md

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Source: https://tomesphere.com/paper/PMC12307231