Cargando…

Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality

Subependymal heterotopia (SEH) is a rare neuronal migration disorder consisting of gray matter nodules along the lateral ventricular walls and is often associated with other brain malformations. Despite most SEH cases showing epilepsy during their lifetimes, very few patients with asymptomatically f...

Descripción completa

Detalles Bibliográficos
Autores principales: Lv, Bin, Zhou, Yushan, Zeng, Jianguang, Wang, Ling, Zhao, Fumin, Chen, Huizhu, Li, Xuesheng, Song, Yu, Xiao, Mei, Ding, Zhiyong, Cheng, Bochao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364927/
https://www.ncbi.nlm.nih.gov/pubmed/35968360
http://dx.doi.org/10.3389/fnins.2022.956545
_version_ 1784765240473288704
author Lv, Bin
Zhou, Yushan
Zeng, Jianguang
Wang, Ling
Zhao, Fumin
Chen, Huizhu
Li, Xuesheng
Song, Yu
Xiao, Mei
Ding, Zhiyong
Cheng, Bochao
author_facet Lv, Bin
Zhou, Yushan
Zeng, Jianguang
Wang, Ling
Zhao, Fumin
Chen, Huizhu
Li, Xuesheng
Song, Yu
Xiao, Mei
Ding, Zhiyong
Cheng, Bochao
author_sort Lv, Bin
collection PubMed
description Subependymal heterotopia (SEH) is a rare neuronal migration disorder consisting of gray matter nodules along the lateral ventricular walls and is often associated with other brain malformations. Despite most SEH cases showing epilepsy during their lifetimes, very few patients with asymptomatically familial SEH tend to cause misdiagnosis or missed diagnosis. We present four familial SEH cases without any positive symptoms and medical history, including two fetuses, who were diagnosed by MRI and confirmed by genetic testing with mutation of filamin A. This report emphasizes the role of MRI in the recognition of SEH at an early age of gestation and in asymptomatically familial SEH. MRI provides a fast, repeatable, reliable, and cheap choice for detecting and screening familial SEH.
format Online
Article
Text
id pubmed-9364927
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Frontiers Media S.A.
record_format MEDLINE/PubMed
spelling pubmed-93649272022-08-11 Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality Lv, Bin Zhou, Yushan Zeng, Jianguang Wang, Ling Zhao, Fumin Chen, Huizhu Li, Xuesheng Song, Yu Xiao, Mei Ding, Zhiyong Cheng, Bochao Front Neurosci Neuroscience Subependymal heterotopia (SEH) is a rare neuronal migration disorder consisting of gray matter nodules along the lateral ventricular walls and is often associated with other brain malformations. Despite most SEH cases showing epilepsy during their lifetimes, very few patients with asymptomatically familial SEH tend to cause misdiagnosis or missed diagnosis. We present four familial SEH cases without any positive symptoms and medical history, including two fetuses, who were diagnosed by MRI and confirmed by genetic testing with mutation of filamin A. This report emphasizes the role of MRI in the recognition of SEH at an early age of gestation and in asymptomatically familial SEH. MRI provides a fast, repeatable, reliable, and cheap choice for detecting and screening familial SEH. Frontiers Media S.A. 2022-07-27 /pmc/articles/PMC9364927/ /pubmed/35968360 http://dx.doi.org/10.3389/fnins.2022.956545 Text en Copyright © 2022 Lv, Zhou, Zeng, Wang, Zhao, Chen, Li, Song, Xiao, Ding and Cheng. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Lv, Bin
Zhou, Yushan
Zeng, Jianguang
Wang, Ling
Zhao, Fumin
Chen, Huizhu
Li, Xuesheng
Song, Yu
Xiao, Mei
Ding, Zhiyong
Cheng, Bochao
Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality
title Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality
title_full Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality
title_fullStr Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality
title_full_unstemmed Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality
title_short Cases report: MRI findings of asymptomatically familial subependymal heterotopia with filamin A gene abnormality
title_sort cases report: mri findings of asymptomatically familial subependymal heterotopia with filamin a gene abnormality
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9364927/
https://www.ncbi.nlm.nih.gov/pubmed/35968360
http://dx.doi.org/10.3389/fnins.2022.956545
work_keys_str_mv AT lvbin casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT zhouyushan casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT zengjianguang casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT wangling casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT zhaofumin casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT chenhuizhu casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT lixuesheng casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT songyu casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT xiaomei casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT dingzhiyong casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality
AT chengbochao casesreportmrifindingsofasymptomaticallyfamilialsubependymalheterotopiawithfilaminageneabnormality