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Journal of Pediatric Neurology 2023; 21(01): 044-048
DOI: 10.1055/s-0042-1759540
Review Article

Epilepsy in Joubert Syndrome: A Still Few Explored Matter

Adriana Prato
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Anna Scuderi
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Greta Amore
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Giulia Spoto
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Vincenzo Salpietro
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Antonio Ceravolo
3   Department of Pediatrics, Cinquefrondi, Reggio Calabria, Italy
,
Giovanni Farello
4   Department of Life, Health and Environmental Sciences, Pediatric Clinic, Coppito, L'Aquila, Italy
,
Giulia Iapadre
2   Department of Pediatrics, University of L'Aquila, L'Aquila, Italy
,
Erica Pironti
5   Department of Woman-Child, Unit of Child Neurology and Psychiatry, Ospedali Riuniti, University of Foggia, Foggia, Italy
,
Daniela Dicanio
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
,
Gabriella Di Rosa
1   Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age “Gaetano Barresi,” University of Messina, Messina, Italy
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Abstract

Epilepsy is rarely associated with Joubert's syndrome and related disorders (JSRD), being reported only in 3% of cases. Few patients have been described, moreover, with poor evidences of specific seizures' semiology or standard of practice for pharmacological treatment. Epilepsy is likely to be related to brain malformations in ciliopathies. Beyond the typical hindbrain malformation, the molar tooth sign, other cerebral anomalies variably reported in JSRD, such as generalized polymicrogyria, hamartomas, periventricular nodular heterotopia, and hippocampal defects, have been described. Herein, we aimed to revise the main clinical and etiopathogenetic characteristics of epilepsy associated with JSRD.

Keywords

epilepsy - Joubert's syndrome and related disorders - causing genes

Authors' Contribution

G.D.R. conceptualized the study; A.P. and A.S. investigated the study; resource collection was done by G.A. and G.I.; data curation was done by G.S. and D.D.; V.S. wrote the original draft preparation; writing—review and editing was done by A.C.; and E.P. and G.F. supervised the study. 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.




Publication History

Received: 23 August 2022

Accepted: 27 October 2022

Article published online:
05 January 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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