A Brief Focus on Joubert Syndrome and Related Acute Complications-Reference-Cited by-同舟云学术

A Brief Focus on Joubert Syndrome and Related Acute Complications

Published:2023-01-05 Issue:01 Volume:21 Page:003-007
ISSN:1304-2580
Container-title:Journal of Pediatric Neurology
language:en
Short-container-title:Journal of Pediatric Neurology

Author:

Manti Sara¹,Gitto Eloisa²,Ceravolo Ida³,Mancuso Alessio¹,Ceravolo Antonio⁴,Salpietro Annamaria⁵,Farello Giovanni⁶,Chimenz Roberto⁷,Iapadre Giulia⁸,Battaglia Francesco⁹,Cuppari Caterina¹

Affiliation:

1. Unit of Pediatric Emergency, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

2. Neonatal and Pediatric Intensive Care Unit, Department of Human Pathology in Adult and Developmental Age Gaetano Barresi, University of Messina, Messina, Italy

3. Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

4. Department of Pediatrics, Cinquefrondi (RC), Italy

5. Pediatrics Clinic, ASST-Spedali Civili of Brescia, Brescia, Italy

6. Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito (AQ), Italy

7. Unit of Pediatric Nephrology and Rheumatology, Department of Human Pathology of the Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy

8. Department of Pediatrics, University of L'Aquila, L'Aquila, Italy

9. Department of Biomedical Sciences and Advanced Therapies, Orthopaedic Clinic, University of Ferrara, Ferrara, Italy

Abstract

AbstractJoubert 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.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0042-1760240.pdf

Reference65 articles.

1. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation;M Joubert;Neurology,1969

2. Analysis and classification of cerebellar malformations;S Patel;AJNR Am J Neuroradiol,2002

3. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients;M Briguglio;Orphanet J Rare Dis,2011

4. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders;F Brancati;Am J Hum Genet,2007

5. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement;F Brancati;Hum Mutat,2009