Laurence-Moon-Bardet-Biedl Syndrome: A 19 Years Girl with Total Blindness and End Stage Renal Disease

Authors

  • Matiur Rahman United Hospital, Dhaka
  • Nurul Islam United Hospital, Dhaka
  • Sarmistha Biswas Dhaka Medical College Hospital
  • H A Zaved United Hospital, Dhaka
  • Gourab Dewan Bangabandhu Sheikh Mujib Medical University, Dhaka

DOI:

https://doi.org/10.3329/jom.v15i1.19885

Keywords:

Consanguinity, polydactyly, total blindness, retinopathy, end stage renal disease

Abstract

Laurence-Moon-Bardet-Biedl syndrome is a rare autosomal recessive disorder characterized bystructural and functional abnormalities of different organ and tissues. Renal involvement is the single most feature of prognostic importance. We report a case with end stage kidney disease. The diagnosis was missed until patient presented with renal dysfunction. Early diagnosis and screening for renal involvement is crucial for prolong survival.

DOI: http://dx.doi.org/10.3329/jom.v15i1.19885

J Medicine 2014; 15: 94-97

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Author Biographies

Matiur Rahman, United Hospital, Dhaka

Senior House Officer, Dept. of Nephrology

Nurul Islam, United Hospital, Dhaka

Consultant, Dept. of Nephrology

Sarmistha Biswas, Dhaka Medical College Hospital

Assistant Professor, Dept. of Medicine

H A Zaved, United Hospital, Dhaka

Senior House Officer, Dept. of Nephrology

Gourab Dewan, Bangabandhu Sheikh Mujib Medical University, Dhaka

FCPS course student


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Published

2014-08-06

How to Cite

Rahman, M., Islam, N., Biswas, S., Zaved, H. A., & Dewan, G. (2014). Laurence-Moon-Bardet-Biedl Syndrome: A 19 Years Girl with Total Blindness and End Stage Renal Disease. Journal of Medicine, 15(1), 94–97. https://doi.org/10.3329/jom.v15i1.19885

Issue

Vol. 15 No. 1 (2014)

Section

Case Reports

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