Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report

Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Col...

Full description

Saved in:
Bibliographic Details
Main Authors: N. Garancini, M. Ghezzi, A. Farolfi, V. Guaia, G. Canali, V. Fabiano, G.V. Zuccotti, E. D'Auria
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Respiratory Medicine Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2213007124001783
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1823864405224325120
author N. Garancini
M. Ghezzi
A. Farolfi
V. Guaia
G. Canali
V. Fabiano
G.V. Zuccotti
E. D'Auria
author_facet N. Garancini
M. Ghezzi
A. Farolfi
V. Guaia
G. Canali
V. Fabiano
G.V. Zuccotti
E. D'Auria
author_sort N. Garancini
collection DOAJ
description Mutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. We report the case of M., affected by a KCNT1-related drug-resistant epileptic encephalopathy, who presented fatal complications with massive hemoptysis due to SPCAs. We aim to increase the awareness regarding this infrequent but potentially severe clinical condition.
format Article
id doaj-art-6c009fe4246f42c8970fb329de0c6f1e
institution Kabale University
issn 2213-0071
language English
publishDate 2025-01-01
publisher Elsevier
record_format Article
series Respiratory Medicine Case Reports
spelling doaj-art-6c009fe4246f42c8970fb329de0c6f1e2025-02-09T05:00:19ZengElsevierRespiratory Medicine Case Reports2213-00712025-01-0153102155Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case reportN. Garancini0M. Ghezzi1A. Farolfi2V. Guaia3G. Canali4V. Fabiano5G.V. Zuccotti6E. D'Auria7Pediatric Department, Buzzi Children's Hospital, Milano, ItalyPediatric Department, Buzzi Children's Hospital, Milano, Italy; Corresponding author.Pediatric Department, Buzzi Children's Hospital, Milano, ItalyPediatric Department, Buzzi Children's Hospital, Milano, ItalyPediatric Department, Buzzi Children's Hospital, Milano, ItalyPediatric Department, Buzzi Children's Hospital, Milano, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milano, ItalyPediatric Department, Buzzi Children's Hospital, Milano, Italy; Department of Biomedical and Clinical Sciences, University of Milan, Milano, ItalyPediatric Department, Buzzi Children's Hospital, Milano, ItalyMutations of KCNT1 gene, encoding for a sodium-gated potassium channel, are causative of a wide spectrum of epilepsies and neurodevelopmental disorders; cardiovascular involvement also seems to be significant, with cardiac arrhythmia and, less frequently, the development of Systemic to Pulmonary Collateral Arteries (SPCAs) has been reported. We report the case of M., affected by a KCNT1-related drug-resistant epileptic encephalopathy, who presented fatal complications with massive hemoptysis due to SPCAs. We aim to increase the awareness regarding this infrequent but potentially severe clinical condition.http://www.sciencedirect.com/science/article/pii/S2213007124001783
spellingShingle N. Garancini
M. Ghezzi
A. Farolfi
V. Guaia
G. Canali
V. Fabiano
G.V. Zuccotti
E. D'Auria
Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report
Respiratory Medicine Case Reports
title Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report
title_full Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report
title_fullStr Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report
title_full_unstemmed Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report
title_short Pulmonary vascular malformations in genetic epileptic encephalopathy: A rare, fatal case report
title_sort pulmonary vascular malformations in genetic epileptic encephalopathy a rare fatal case report
url http://www.sciencedirect.com/science/article/pii/S2213007124001783
work_keys_str_mv AT ngarancini pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport
AT mghezzi pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport
AT afarolfi pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport
AT vguaia pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport
AT gcanali pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport
AT vfabiano pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport
AT gvzuccotti pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport
AT edauria pulmonaryvascularmalformationsingeneticepilepticencephalopathyararefatalcasereport