Year :
2013
| Month :
June
| Volume :
7
| Issue :
6
| Page :
1163 - 1164
Full Version
A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
Published: June 1, 2013 | DOI: https://doi.org/10.7860/JCDR/2013/.3030
Prasanth Y.M., Mohammed Ashraf, Venkatesh B.M., Sharol Menezes, Abraham Mohan
1. Assistant Professor, Department of Medicine,
Father Muller Medical college, Mangalore,
Karnataka, India.
2. Associate Professor, Department of Medicine,
Father Muller Medical college, Mangalore,
Karnataka, India.
3. Professor, Department of Medicine,
Father Muller Medical college, Mangalore,
Karnataka, India.
4. Resident, Department of Medicine,
Father Muller Medical college, Mangalore,
Karnataka, India.
5. Resident, Department of Medicine,
Father Muller Medical college,
Mangalore, Karnataka, India.
Correspondence Address :
Dr. Prasanth Y.M,
Assistant Professor, Department of Medicine,
Father Muller Medical College, Mangalore,
Karnataka-575002, India.
Phone: +91 9886267264
E-mail: drprashanthym@gmail.com
Abstract
The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis. A 22 years old male patient presented with an acute onset, rapidly progressive, flaccid weakness in all four limbs. An examination revealed a moon shaped face, acanthosis nigricans, lower limb polydactyly, central obesity, small testicular size, absence of the axillary and pubic hairs, severely impaired social adaptive functioning and retinitis pigmentosa. The central nervous system examination showed hypotonia, a grade zero power and absent reflexes. The laboratory reports showed that the patient had hypokalaemia and diabetes mellitus. The literature showed hypokalaemic paralysis as a rare complication of the Bardet-Biedl syndrome.
Keywords
Bardet-Biedl syndrome, Hypokalaemic paralysis, Obesity, Retinitis pigmentosa, Ciliopathies, Autosomal recessive disorder
Introduction
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DOI: 10.7860/JCDR/2013/4770.3030
Financial OR OTHER COMPETING INTERESTS:
None.
Date of Submission: Jun 27, 2012
Date of Peer Review: Jul 23, 2012
Date of Acceptance: Apr 07, 2013
Date of Publishing: Jun 01, 2013
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