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...
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Elsevier
2025-01-01
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Series: | Respiratory Medicine Case Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2213007124001783 |
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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 |
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