Submitted: 08 Feb 2017
Accepted: 10 Apr 2017
ePublished: 27 Apr 2017
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J Prev Epidemiol. 2017;2(2): e10.
  Abstract View: 547
  PDF Download: 366

Case Report

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

Indhumathi Elayaperumal 1, Deepashree Goravigere Anandkumar 1 * , Jayakumar Macha 1

1 Department of Nephrology, Sri Ramachandra University, Chennai, India
Correspondence to: Deepashree Goravigere Anandkumar deepa19shree@yahoo.co.in

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. 
Keywords: Joubert’s syndrome, End-stage renal disease, Kidney
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. DOI: 10.15171/jpe.2017.04.
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