Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report

Joubert syndrome (JS) is a rare genetic disorder usually diagnosed during childhood. Adult Joubert syndrome is rare, and that too in siblings from a non-consanguineous marriage in their adulthood is extremely rare, with very few cases reported worldwide. The need for expensive imaging modality to ai...

Descripción completa

Detalles Bibliográficos
Autores principales: Kannauje, Pankaj K, Pandit, Vinay, Wasnik, Preetam, Pati, Saroj K, Venkatesan, Nanditha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388958/
https://www.ncbi.nlm.nih.gov/pubmed/35989767
http://dx.doi.org/10.7759/cureus.27042
_version_ 1784770329866928128
author Kannauje, Pankaj K
Pandit, Vinay
Wasnik, Preetam
Pati, Saroj K
Venkatesan, Nanditha
author_facet Kannauje, Pankaj K
Pandit, Vinay
Wasnik, Preetam
Pati, Saroj K
Venkatesan, Nanditha
author_sort Kannauje, Pankaj K
collection PubMed
description Joubert syndrome (JS) is a rare genetic disorder usually diagnosed during childhood. Adult Joubert syndrome is rare, and that too in siblings from a non-consanguineous marriage in their adulthood is extremely rare, with very few cases reported worldwide. The need for expensive imaging modality to aid diagnosis has also been cited as a drawback in diagnosing the condition in resource-poor areas. We describe the case of two adult siblings who came for other diseases and were diagnosed with Joubert syndrome.
format Online
Article
Text
id pubmed-9388958
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-93889582022-08-20 Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report Kannauje, Pankaj K Pandit, Vinay Wasnik, Preetam Pati, Saroj K Venkatesan, Nanditha Cureus Internal Medicine Joubert syndrome (JS) is a rare genetic disorder usually diagnosed during childhood. Adult Joubert syndrome is rare, and that too in siblings from a non-consanguineous marriage in their adulthood is extremely rare, with very few cases reported worldwide. The need for expensive imaging modality to aid diagnosis has also been cited as a drawback in diagnosing the condition in resource-poor areas. We describe the case of two adult siblings who came for other diseases and were diagnosed with Joubert syndrome. Cureus 2022-07-19 /pmc/articles/PMC9388958/ /pubmed/35989767 http://dx.doi.org/10.7759/cureus.27042 Text en Copyright © 2022, Kannauje et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Kannauje, Pankaj K
Pandit, Vinay
Wasnik, Preetam
Pati, Saroj K
Venkatesan, Nanditha
Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report
title Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report
title_full Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report
title_fullStr Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report
title_full_unstemmed Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report
title_short Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report
title_sort diagnosing joubert syndrome in two adult siblings: a very rare case report
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388958/
https://www.ncbi.nlm.nih.gov/pubmed/35989767
http://dx.doi.org/10.7759/cureus.27042
work_keys_str_mv AT kannaujepankajk diagnosingjoubertsyndromeintwoadultsiblingsaveryrarecasereport
AT panditvinay diagnosingjoubertsyndromeintwoadultsiblingsaveryrarecasereport
AT wasnikpreetam diagnosingjoubertsyndromeintwoadultsiblingsaveryrarecasereport
AT patisarojk diagnosingjoubertsyndromeintwoadultsiblingsaveryrarecasereport
AT venkatesannanditha diagnosingjoubertsyndromeintwoadultsiblingsaveryrarecasereport

Ejemplares similares