Joubert's syndrome presenting as end-stage renal disease; a case report

Indhumathi Elayaperumal, Deepashree Goravigere Anandkumar, Jayakumar Macha

Abstract


Joubert's syndrome is a genetically heterogeneous and autosomal recessive inherited disorder characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. Molar tooth sign and molecular diagnosis is the key diagnostic feature for this disease. However, existing diagnostics method of Joubert's syndrome is challenging, due to extremely clinically and genetically heterogeneous, overlapping with several other ciliopathies. Here we report the clinical findings and the clinical course of end-stage renal disease (ESRD) in early childhood in Joubert syndrome.

 

Core tip
Joubert's syndrome is a genetically heterogeneous and autosomal recessive inherited disorder characterized by hypotonia, ataxia, psychomotor delay, and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. Molar tooth sign and molecular diagnosis is the key diagnostic feature for this disease.

 

Citation: Elayaperumal I, Anandkumar DG, Macha JM. Joubert's syndrome presenting as end-stage renal disease; a case report. J Prev Epidemiol. 2017;2(2):e04.

 


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Creative Commons Attribution 4.0 License
 This work is licensed under a Creative Commons Attribution 4.0 License.

Copyright © 2017 The Author(s); Published by Society of Diabetic Nephropathy Prevention.
 
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