Bardet Biedl Syndrome: A Case Report

Authors

  • Md Masud Un Nabi Department of Endocrinology, BIRDEM General Hospital, Shahbagh, Dhaka
  • Md Faruque Pathan Professor and Head, Department of Endocrinology,BIRDEM General Hospital, Shahbagh, Dhaka
  • Milton Barua Department of Endocrinology, BIRDEM General Hospital, Shahbagh, Dhaka

DOI:

https://doi.org/10.3329/birdem.v9i2.41284

Keywords:

Bardet Biedl syndrome, Retinitis pigmentosa, Lawrence Moon syndrome, obesity, hypogonadism

Abstract

Bardet Biedl syndrome is a rare heterogenous autosomal recessive disorder. A very few cases were reported in Bangladesh. A 12-year-old boy presented with childhood obesity, polydactyly in all 4 limbs, bilateral gynaecomastia, acanthosisnigricans, night blindness and mental retardation. After hormonal evaluation he was found to have hypogonadotrophichypogonadism, dislipidaemia, renal impairment, elevated liver enzymes and retinitis pigmentosa. We advised him to reduce weight and implemented and weight reducing diet. Levothyroxine and metformin were started. He was scheduled for eye check-up every 3 months and follow up at endocrinology.

Birdem Med J 2019; 9(2): 162-164

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Published

2019-05-05

How to Cite

Nabi, M. M. U., Pathan, M. F., & Barua, M. (2019). Bardet Biedl Syndrome: A Case Report. BIRDEM Medical Journal, 9(2), 162–164. https://doi.org/10.3329/birdem.v9i2.41284

Issue

Section

Case Reports