A Case Report of Bardet Biedl Syndrome in a Patient from Pakistan who Presented with Osmotic Symptoms associated with Diabetes Mellitus

Authors

DOI:

https://doi.org/10.5195/ijms.2024.1932

Keywords:

Bardet biedl syndrome, Laurence moon bardet biedl syndrome, Diabetes Mellitus

Abstract

Background: The primary features of Bardet Biedl syndrome (BBS) are characterized by retinal degeneration, central obesity, post-axial polydactyly, intellectual impairment, hypogonadism, and renal anomalies. The secondary clinical features are syndactyly, delay in the achievement of developmental milestones, diabetes insipidus, diabetes mellitus, congenital heart disease and liver involvement. It is diagnosed when a patient has either four primary or three primary and two secondary clinical features and the management depends upon those predominant features. 

Case presentation: A 12-year-old boy presented with polyuria, polydipsia and polyphagia. His developmental milestones were delayed and had syndromic features on physical exmination. Ultrasound of the abdomen and pelvis showed mild right-side hydronephrosis. His BMI was 28 and HbA1c was 18.3%, and values of LH and FSH were decreased. As a result, he was diagnosed with a case of BBS. He was commenced on insulin therapy with  Insulin Regular (Human Insulin)and Insulin NPH (Human Insulin). 

Conclusion: Patients presenting with polyuria, polydipsia, polyphagia along with the presence of syndromic features, should be assessed for BBS as osmotic symptoms associated with diabetes mellitus can be initial clinical presentation of BBS. Its management depends upon the signs and symptoms of the patient. Various options including weight loss, exercise, oral hypoglycemic drugs, and insulin are available to treat diabetes mellitus in BBS. Some cases can have very high levels of HbA1c on initial presentation, which may require insulin without trying oral hypoglycemic drugs to treat diabetes mellitus in BBS.

Metrics

Metrics Loading ...

References

Forsythe E, Beales PL. Bardet–Biedl syndrome. Eur J Hum Genet. 2013;21(1):8–13.

National Institutes of Health. Bardet-Biedl Syndrome Overview. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1363/. Last Updated March 23, 2023: cited June 14, 2024.

Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, et al. Bardet–Biedl syndrome: a case series. J Med Case Rep. 2022;16:169.

Caba L, Florea L, Braha EE, Lupu VV, Gorduza EV. Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do. JMDH. 2022;15:2153–67.

Khan OA, Majeed R, Saad M, Khan A, Ghassan A. Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population. Cureus. 2019;11(2):e4114.

NORD (National Organization for Rare Disorders). Bardet-Biedl Syndrome. Available from: https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/. Last Updated July 12, 2022; cited Dec 4, 2022.

Garg M, Madhu S, Dwarakanath C, Ammini A. Laurence-Moon-Bardet-Biedl Syndrome – Presenting with Acute Onset of Diabetes Mellitus. Med J Armed Forces India. 1998;54(2):155–6.

Forsythe E, Kenny J, Bacchelli C, Beales PL. Managing Bardet-Biedl Syndrome-Now and in the Future. Front Pediatr. 2018;6:23.

Quader M, Islam MS, Ahmed QMU, Azad MAK, Rahim MA. Laurence -Moon-Bardet- Biedl syndrome with Diabetes Mellitus. Journal of Medicine. 2012;13(1):97–9.

American Diabetes Association (ADA). Diabetes Diagnosis and Tests. Available from: https://diabetes.org/diabetes/a1c/diagnosis. Dec 4, cited 2022.

Mujahid S, Hunt KF, Cheah YS, Forsythe E, Hazlehurst JM, Sparks K, et al. The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. J Clin Endocrinol Metab. 2018;103(5):1834–41.

ADA. Insulin Resistance. Available from: https://diabetes.org/healthy-living/medication-treatments/insulin-resistance. cited Dec 4, 2022.

ElSayed NA, Aleppo G, Aroda VR, Bannuru RR, Brown FM, Bruemmer D, et al. 9. Pharmacologic Approaches to Glycemic Treatment: Standards of Care in Diabetes—2023. Diabetes Care. 2022;46(Supplement_1):S140–57.

Myriad Women’s Health. Bardet-Biedl syndrome, BBS12-related. Available from: https://myriad.com/womens-health/diseases/bardet-biedl-syndrome-bbs12-related/. cited May 16, 2023.

Polydactyly and Syndactyly

Downloads

Published

2024-06-27 — Updated on 2024-10-23

Versions

How to Cite

Babar, B., Shaukat, M. A., Manzoor, M., Bibi, S., & Khan, H. (2024). A Case Report of Bardet Biedl Syndrome in a Patient from Pakistan who Presented with Osmotic Symptoms associated with Diabetes Mellitus. International Journal of Medical Students, 12(2), 204–207. https://doi.org/10.5195/ijms.2024.1932 (Original work published July 9, 2024)

Issue

Vol. 12 No. 2 (2024)

Section

Case Report

Categories

License

Copyright (c) 2024 Bakht Babar, Muqsit Ali Shaukat, Misbah Manzoor, Samina Bibi, Hashim Khan

Creative Commons License

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

  1. The Author retains copyright in the Work, where the term “Work” shall include all digital objects that may result in subsequent electronic publication or distribution.
  2. Upon acceptance of the Work, the author shall grant to the Publisher the right of first publication of the Work.
  3. The Author shall grant to the Publisher and its agents the nonexclusive perpetual right and license to publish, archive, and make accessible the Work in whole or in part in all forms of media now or hereafter known under a Creative Commons Attribution 4.0 International License or its equivalent, which, for the avoidance of doubt, allows others to copy, distribute, and transmit the Work under the following conditions:
    1. Attribution—other users must attribute the Work in the manner specified by the author as indicated on the journal Web site; with the understanding that the above condition can be waived with permission from the Author and that where the Work or any of its elements is in the public domain under applicable law, that status is in no way affected by the license.
    2. The Author is able to enter into separate, additional contractual arrangements for the nonexclusive distribution of the journal's published version of the Work (e.g., post it to an institutional repository or publish it in a book), as long as there is provided in the document an acknowledgment of its initial publication in this journal.
    3. Authors are permitted and encouraged to post online a prepublication manuscript (but not the Publisher’s final formatted PDF version of the Work) in institutional repositories or on their Websites prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work. Any such posting made before acceptance and publication of the Work shall be updated upon publication to include a reference to the Publisher-assigned DOI (Digital Object Identifier) and a link to the online abstract for the final published Work in the Journal.
    4. Upon Publisher’s request, the Author agrees to furnish promptly to Publisher, at the Author’s own expense, written evidence of the permissions, licenses, and consents for use of third-party material included within the Work, except as determined by Publisher to be covered by the principles of Fair Use.
    5. The Author represents and warrants that:
      1. the Work is the Author’s original work;
      2. the Author has not transferred, and will not transfer, exclusive rights in the Work to any third party;
      3. the Work is not pending review or under consideration by another publisher;
      4. the Work has not previously been published;
      5. the Work contains no misrepresentation or infringement of the Work or property of other authors or third parties; and
      6. the Work contains no libel, invasion of privacy, or other unlawful matter.
    6. The Author agrees to indemnify and hold Publisher harmless from the Author’s breach of the representations and warranties contained in Paragraph 6 above, as well as any claim or proceeding relating to Publisher’s use and publication of any content contained in the Work, including third-party content.

Enforcement of copyright

The IJMS takes the protection of copyright very seriously.

If the IJMS discovers that you have used its copyright materials in contravention of the license above, the IJMS may bring legal proceedings against you seeking reparation and an injunction to stop you using those materials. You could also be ordered to pay legal costs.

If you become aware of any use of the IJMS' copyright materials that contravenes or may contravene the license above, please report this by email to contact@ijms.org

 

Infringing material

If you become aware of any material on the website that you believe infringes your or any other person's copyright, please report this by email to contact@ijms.org

Most read articles by the same author(s)