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





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


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 Loading ...


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


2024-06-27 — Updated on 2024-07-09

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



Case Report


Most read articles by the same author(s)