Laurence-Moon-Bardet-Biedl Syndrome: A case report

  • Md. Mozammel Haque Department of Pediatrics, 250 Bedded Hospital, Moulvibazar, Sylhet
  • Kamrunnaher Shultana Department of Pediatrics and PICU, Square Hospital Ltd, West Panthapath, Dhaka
  • Tahmina Binte Matin Department of Pediatrics, Railway General Hospital, Kamlapur, Dhaka
  • Md. Shohidul Islam Khan Department of Pediatrics, 250 Bedded Hospital, Moulvibazar, Sylhet
  • Abdullah Al Baki Department of Pediatrics, 250 Bedded Hospital, Moulvibazar, Sylhet
DOI: https://doi.org/10.14238/pi59.6.2019.349-52
Keywords: obesity; retinitis pigmentosa; polydactyly; mental retardationpigmentosa

Abstract

Laurence-Moon-Bardet-Beidl syndrome is a rare ciliopathic and pleiotropic human autosomal recessive genetic disorder.1 In 1886, Laurence and Moon explained a case of a 7-year-old female with rod-cone dystrophy, hypogenitalism, mental retardation, obesity, and polydactyly. In 1920, Bardet described a 4-year-old female patient presented with rod-cone dystrophy, obesity, polydactyly (11 toes), and mental retardation.1 Two years after Bardet's report, Biedl highlighted the complete scenario of clinical signs which includes skull abnormalities, anal atresia, mental deficiency, and gastrointestinal conflicts.1 Since these discoveries, symptoms such as obesity, hypogonadism, retinal pigment defects, psychological hindrance, and polydactylismin in several conditions as combinations, frequently in children with normal parents (cousin marriages) has been termed as Laurence-Moon-Bardet-Biedl syndrome (LMBBS).1

References

1. Khan PA, Nishaat J, Noor S, Fatima N. Laurence-Moon-Bardet-Biedl syndrome: a rare case report in a tertiary care teaching hospital, Hyderabad, Telangana, India. Int J Med Public Health. 2017; 7: 68-71.
2. Andrade LJ, Andrade R, França CS, Bittencourt AV. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. Arq Bras Oftalmol. 2009; 72: 694-96.
3. Okoronkwo NC. A rare classical presentation of Bardet-Biedl syndrome in a three-year-old male from South East Nigeria: a case report. Case Reports Clin Med. 2016; 5: 243-49.
4. Ahmed SN, Shahin MA, Chowdhury R, Ahammad AM, Shazzad MN, Alam MR, et al. A 13-year-old female with Bardet-Biedl syndrome - a case report. Bangladesh J Med. 2015; 26: 31-34.
5. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med. 1989; 321: 1002-1009.
6. Farag TI, Teebi AS. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet. 1989; 36: 463-64.
7. Karaman A. Bardet-Biedl syndrome: a case report. Dermatol Online J. 2008; 14: 9.
8. Sulaiman, Basha SM, Kaladhar GI, Reddy SR. Laurence-Moon-Bardet-Biedl syndrome-a case report. Asian Pac J Health Sci. 2016; 3: 209-11.
Published
2019-11-08
How to Cite
1.
Haque MM, Shultana K, Matin T, Khan MS, Al Baki A. Laurence-Moon-Bardet-Biedl Syndrome: A case report. PI [Internet]. 8Nov.2019 [cited 25Nov.2024];59(6):349-2. Available from: https://paediatricaindonesiana.org/index.php/paediatrica-indonesiana/article/view/2097
Issue
Vol 59 No 6 (2019): November 2019
Section
Case Report

Copyright (c) 2019 Md Mozammel Haque

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Received 2019-01-24
Accepted 2019-11-08
Published 2019-11-08