A Case of Joubert Syndrome with Chronic Kidney Disease

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...

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Autores principales: Shamsudheen, M. P., Das, Uttara, Taduri, Gangadhar, Guditi, Swarnalatha, Karthik, Raja, Thakur, Rajani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101675/
https://www.ncbi.nlm.nih.gov/pubmed/33994691
http://dx.doi.org/10.4103/ijn.IJN_287_19
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author Shamsudheen, M. P.
Das, Uttara
Taduri, Gangadhar
Guditi, Swarnalatha
Karthik, Raja
Thakur, Rajani
author_facet Shamsudheen, M. P.
Das, Uttara
Taduri, Gangadhar
Guditi, Swarnalatha
Karthik, Raja
Thakur, Rajani
author_sort Shamsudheen, M. P.
collection PubMed
description 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.
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spelling pubmed-81016752021-05-13 A Case of Joubert Syndrome with Chronic Kidney Disease Shamsudheen, M. P. Das, Uttara Taduri, Gangadhar Guditi, Swarnalatha Karthik, Raja Thakur, Rajani Indian J Nephrol Case Report 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. Wolters Kluwer - Medknow 2021 2021-01-27 /pmc/articles/PMC8101675/ /pubmed/33994691 http://dx.doi.org/10.4103/ijn.IJN_287_19 Text en Copyright: © 2021 Indian Journal of Nephrology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Shamsudheen, M. P.
Das, Uttara
Taduri, Gangadhar
Guditi, Swarnalatha
Karthik, Raja
Thakur, Rajani
A Case of Joubert Syndrome with Chronic Kidney Disease
title A Case of Joubert Syndrome with Chronic Kidney Disease
title_full A Case of Joubert Syndrome with Chronic Kidney Disease
title_fullStr A Case of Joubert Syndrome with Chronic Kidney Disease
title_full_unstemmed A Case of Joubert Syndrome with Chronic Kidney Disease
title_short A Case of Joubert Syndrome with Chronic Kidney Disease
title_sort case of joubert syndrome with chronic kidney disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8101675/
https://www.ncbi.nlm.nih.gov/pubmed/33994691
http://dx.doi.org/10.4103/ijn.IJN_287_19
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