A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis
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...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2013-06-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/3030/47%20-%204770_PF1(M)_E(C)_F(T)_PF1(M)_PF1(T)_FA(T)_PF1(PUH).pdf |
| Summary: | 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. |
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| ISSN: | 2249-782X 0973-709X |