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Journal of Pediatric Neurology 2023; 21(01): 003-007
DOI: 10.1055/s-0042-1760240
Review Article

A Brief Focus on Joubert Syndrome and Related Acute Complications

Sara Manti
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Eloisa Gitto
2   Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age Gaetano Barresi, University of Messina, Messina, Italy
,
Ida Ceravolo
3   Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy
,
Alessio Mancuso
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Antonio Ceravolo
4   Department of Pediatrics, Cinquefrondi (RC), Italy
,
Annamaria Salpietro
5   Pediatrics Clinic, ASST-Spedali Civili of Brescia, Brescia, Italy
,
Giovanni Farello
6   Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito (AQ), Italy
,
Roberto Chimenz
7   Unit of Pediatric Nephrology and Rheumatology, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Giulia Iapadre
8   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Francesco Battaglia
9   Department of Biomedical Sciences and Advanced Therapies, Orthopaedic Clinic, University of Ferrara, Ferrara, Italy
,
Caterina Cuppari
1   Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
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Abstract

Joubert syndrome (JS) and related disorders are a group of congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign, a complex midbrain–hindbrain malformation. Moreover, JS may be associated with multiorgan involvement, mainly nephronophthisis, hepatic fibrosis, retinal dystrophy, and other abnormalities with both inter- and intra-familial variability. Therefore, these patients should be followed by both diagnostic protocol and multidisciplinary approach to assess multiorgan involvement. Here, we briefly summarize the possible complications in patients with JS.

Keywords

emergencies - Joubert syndrome - multiorgan involvement

Authors' Contributions

S.M. and C.C. contributed toward conceptualization. E.G. and A.C. did the investigation. A.S. and A.M. contributed toward the resources. G.F. did the data curation. R.C. wrote and prepared the original draft. G.I. and I.C. wrote the review and edited it. C.C. and F.B. did the supervision. All authors have read and agreed to the published version of the manuscript.


Data Availability Statement

The data presented in this study are available on request from the corresponding author.




Publikationsverlauf

Eingereicht: 22. August 2022

Angenommen: 27. Oktober 2022

Artikel online veröffentlicht:
05. Januar 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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