PDF herunterladen
Neuropediatrics
DOI: 10.1055/a-2736-4661
Short Communications

Focal Cortical Dysplasia Type IIa and SCN5A-associated Genetic Arrhythmia: A Case Report.

Autoren

  • Leon Joschka Steigleder

    1   Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany (Ringgold ID: RIN36901)

  • Tom Pieper

    1   Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany (Ringgold ID: RIN36901)

  • Gerhard Kluger

    2   Schön Klinik Vogtareuth, Vogtareuth, Germany (Ringgold ID: RIN36901)
    3   Research Institute “Rehabilitation, Transition, Palliation”, Paracelsus Medical University Salzburg, Salzburg, Austria (Ringgold ID: RIN31507)

  • Kristina Weber

    1   Clinic for Neuropediatrics, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Vogtareuth, Germany (Ringgold ID: RIN36901)

  • Friederike Studt

    2   Schön Klinik Vogtareuth, Vogtareuth, Germany (Ringgold ID: RIN36901)

  • Heidi L Estner

    4   Department of Medicine I, LMU Munich, Munich, Germany (Ringgold ID: RIN9183)

  • Sebastian Clauß

    4   Department of Medicine I, LMU Munich, Munich, Germany (Ringgold ID: RIN9183)
    5   Institute of Surgical Research at the Walter-Brendel-Centre of Experimental Medicine, LMU Munich, Munich, Germany (Ringgold ID: RIN9183)
    6   DZHK (German Centre for Cardiovascular Research), Partner site Munich, Munich Heart Alliance, Munich, Germany
    7   Interfaculty Center for Endocrine and Cardiovascular Disease Network Modelling and Clinical Transfer (ICONLMU), LMU Munich, Munich, Germany (Ringgold ID: RIN9183)

  • Meike Schrader

    8   Division of Pediatric Cardiology and Intensive Care, LMU Munich, Munich, Germany (Ringgold ID: RIN9183)

  • Robert Dalla Pozza

    8   Division of Pediatric Cardiology and Intensive Care, LMU Munich, Munich, Germany (Ringgold ID: RIN9183)

  • Milka Pringsheim

    9   Neuropediatric, Schon Klinik Vogtareuth, Vogtareuth, Germany (Ringgold ID: RIN36901)
    10   Congenital heart disease, Deutsches Herzzentrum Munchen des Freistaates Bayern, Munchen, Germany (Ringgold ID: RIN14924)
Weitere Informationen
Auch verfügbar auf
 als PDF herunterladen

We report the dramatic clinical course of a 13-year-old male patient with a history of focal structural epilepsy starting at the age of 18 months due to Focal Cortical Dysplasia (FCD) IIa and at that time undetected genetic arrhythmia syndrome due to a pathogenic variant in Sodium voltage-gated channel alpha subunit 5 (SCN5A) gene. High-resolution MRI eventually detected FCD in the left suprabasal margin matching the EEG focus. At the age of 12 years, epileptological-surgical evaluation led to lesionectomy, which resulted in seizure freedom postoperatively. Months later, the patient experienced an episode of leg pain, increased tone of the upper body and subsequent cardiac arrest. Resuscitation efforts were successful, leading to survival with hypoxic brain injury. Unexpected cardiac arrest not in line with the previous seizure semiology led to further cardiological examinations including electrophysiology and genetic testing, revealing a pathogenic SCN5A variant associated with arrhythmia syndromes. A two-chamber implantable cardioverter defibrillator (ICD) was implanted. To our knowledge, this combination of diseases hasn’t been reported yet, a causal relationship stays speculatively. Nevertheless, it highlights the complexity of coexisting structural and genetic conditions that can only be detected in alertness to uncommon conditions and via an interdisciplinary approach.



Publikationsverlauf

Eingereicht: 28. Mai 2025

Angenommen nach Revision: 30. Oktober 2025

Accepted Manuscript online:
03. November 2025

© . Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany