Diagnosing Joubert Syndrome in Two Adult Siblings: A Very Rare Case Report.
hypotonia
joubert syndrome (js)
joubert syndrome-related disorders (jsrds)
molar tooth sign (mts)
mri
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
accepted:
19
07
2022
entrez:
22
8
2022
pubmed:
23
8
2022
medline:
23
8
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 35989767
doi: 10.7759/cureus.27042
pmc: PMC9388958
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e27042Informations de copyright
Copyright © 2022, Kannauje et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
Références
Lancet Neurol. 2013 Sep;12(9):894-905
pubmed: 23870701
Am J Hum Genet. 1999 Dec;65(6):1666-71
pubmed: 10577920
Orphanet J Rare Dis. 2010 Jul 08;5:20
pubmed: 20615230
Rev Neurol. 2001 May 1-15;32(9):812-7
pubmed: 11424029
Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):326-40
pubmed: 19876931
Radiology. 2000 Aug;216(2):379-82
pubmed: 10924557
J Child Neurol. 1999 Jun;14(6):368-76
pubmed: 10385844
Paediatr Child Health. 2003 Oct;8(8):499-502
pubmed: 20019935
AJNR Am J Neuroradiol. 2011 Sep;32(8):1459-63
pubmed: 21680654
Turk J Pediatr. 2012 Nov-Dec;54(6):605-11
pubmed: 23692786
Transl Sci Rare Dis. 2019 Jul 04;4(1-2):25-49
pubmed: 31763177