A Case of Joubert Syndrome with Chronic Kidney Disease

• Main Authors: M P Shamsudheen, Uttara Das, Gangadhar Taduri, Swarnalatha Guditi, Raja Karthik, Rajani Thakur
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2021-01-01
• Series: Indian Journal of Nephrology
• Subjects: cerebello-oculo-renal syndrome; ciliopathy; joubert syndrome; molar tooth sign
• Online Access: http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2021;volume=31;issue=1;spage=61;epage=63;aulast=Shamsudheen

Joubert syndrome is a genetically heterogeneous disorder that belongs to the group of cerebello-oculo-renal syndromes. It is characterised by neurodevelopmental abnormalities and complex midbrain-hindbrain malformation, visible on brain imaging as a molar tooth sign. It is classified as a ciliopathy and has variable renal involvement. Herein, we report a case of a 9-year-old boy with developmental delay, presented as chronic kidney disease and evaluation showed features of Joubert syndrome. Recognition of specific clinical and radiological findings will help in early diagnosis and appropriate care.