Cargando…

Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review

Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. EIDEE is characterized by seizures that begin during the first three months of life and are accompanied by developmental impairment...

Descripción completa

Detalles Bibliográficos
Autores principales: Chou, I-Jun, Hou, Ju-Yin, Fan, Wen-Lang, Tsai, Meng-Han, Lin, Kuang-Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137075/
https://www.ncbi.nlm.nih.gov/pubmed/37189870
http://dx.doi.org/10.3390/children10040621
_version_ 1785032372116258816
author Chou, I-Jun
Hou, Ju-Yin
Fan, Wen-Lang
Tsai, Meng-Han
Lin, Kuang-Lin
author_facet Chou, I-Jun
Hou, Ju-Yin
Fan, Wen-Lang
Tsai, Meng-Han
Lin, Kuang-Lin
author_sort Chou, I-Jun
collection PubMed
description Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. EIDEE is characterized by seizures that begin during the first three months of life and are accompanied by developmental impairment over time. In this article, we present three patients with EIDEE who experienced neonatal-onset seizures that developed into intractable seizures during infancy. Whole exome sequencing revealed a de novo heterozygous missense variant in all three patients in the p.Glu209Lys variant of the PACS2 gene. We conducted a literature review and found 29 cases to characterize the seizure patterns, neuroimaging features, the usage of anticonvulsants, and the clinical neurodevelopmental outcomes of PACS2-related EIDEE. The seizures were characterized by brief, recurring tonic seizures in the upper limbs, sometimes accompanied by autonomic features. Neuroimaging abnormalities were observed in the posterior fossa region, including mega cisterna magna, cerebellar dysplasia, and vermian hypoplasia. The long-term prognosis ranges from low–average intelligence to severe developmental retardation, emphasizing the importance of early recognition and accurate diagnosis by pediatric neurologists to provide personalized patient management.
format Online
Article
Text
id pubmed-10137075
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-101370752023-04-28 Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review Chou, I-Jun Hou, Ju-Yin Fan, Wen-Lang Tsai, Meng-Han Lin, Kuang-Lin Children (Basel) Article Phosphofurin Acidic Cluster Sorting Protein 2 (PACS2)-related early infantile developmental and epileptic encephalopathy (EIDEE) is a rare neurodevelopmental disorder. EIDEE is characterized by seizures that begin during the first three months of life and are accompanied by developmental impairment over time. In this article, we present three patients with EIDEE who experienced neonatal-onset seizures that developed into intractable seizures during infancy. Whole exome sequencing revealed a de novo heterozygous missense variant in all three patients in the p.Glu209Lys variant of the PACS2 gene. We conducted a literature review and found 29 cases to characterize the seizure patterns, neuroimaging features, the usage of anticonvulsants, and the clinical neurodevelopmental outcomes of PACS2-related EIDEE. The seizures were characterized by brief, recurring tonic seizures in the upper limbs, sometimes accompanied by autonomic features. Neuroimaging abnormalities were observed in the posterior fossa region, including mega cisterna magna, cerebellar dysplasia, and vermian hypoplasia. The long-term prognosis ranges from low–average intelligence to severe developmental retardation, emphasizing the importance of early recognition and accurate diagnosis by pediatric neurologists to provide personalized patient management. MDPI 2023-03-26 /pmc/articles/PMC10137075/ /pubmed/37189870 http://dx.doi.org/10.3390/children10040621 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Chou, I-Jun
Hou, Ju-Yin
Fan, Wen-Lang
Tsai, Meng-Han
Lin, Kuang-Lin
Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review
title Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review
title_full Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review
title_fullStr Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review
title_full_unstemmed Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review
title_short Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review
title_sort long-term outcome of neonatal seizure with pacs2 mutation: case series and literature review
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137075/
https://www.ncbi.nlm.nih.gov/pubmed/37189870
http://dx.doi.org/10.3390/children10040621
work_keys_str_mv AT chouijun longtermoutcomeofneonatalseizurewithpacs2mutationcaseseriesandliteraturereview
AT houjuyin longtermoutcomeofneonatalseizurewithpacs2mutationcaseseriesandliteraturereview
AT fanwenlang longtermoutcomeofneonatalseizurewithpacs2mutationcaseseriesandliteraturereview
AT tsaimenghan longtermoutcomeofneonatalseizurewithpacs2mutationcaseseriesandliteraturereview
AT linkuanglin longtermoutcomeofneonatalseizurewithpacs2mutationcaseseriesandliteraturereview