Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation

Nicholas Fearns; Matias Wagner; Ingo Borggräfe; Mathias Kunz; Jan Rémi; Christian Vollmar

doi:10.1055/a-2236-7066

Neuropediatrics, Table of Contents

Neuropediatrics 2024; 55(04): 255-259
DOI: 10.1055/a-2236-7066

Short Communication

Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation

Nicholas Fearns

¹Department of Neurology, University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany

,

Matias Wagner

²Institute of Human Genetics, University Hospital rechts der Isar, Technical University of Munich (TUM), Munich, Germany

³Institute of Neurogenomics, Helmholtz Center Munich, Munich, Germany

⁴Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany

,

Ingo Borggräfe

⁴Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany

,

Mathias Kunz

⁵Department of Neurosurgery, University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany

,

Jan Rémi

¹Department of Neurology, University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany

,

Christian Vollmar

¹Department of Neurology, University Hospital, Ludwig-Maximilian University (LMU) Munich, Munich, Germany

› Author Affiliations

Abstract

Pathogenic variants in COL4A1, encoding the α chain of type IV collagen, have been associated with cerebrovascular pathology as well as malformations of cortical development, thereby causing structural epilepsy. This case illustrates successful resective epilepsy surgery in a 12-month-old girl with left occipital focal cortical dysplasia (FCD) associated with a heterozygous splice-donor variant in COL4A1. She presented with drug-resistant focal epilepsy with daily seizures from the age of 2 months, refractory to several combinations of antiseizure medications, as well as mild right-sided hemiparesis and developmental delay. All presurgical diagnostic modalities, including ictal and interictal electroencephalography, magnetic resonance imaging, and ictal fluorodeoxyglucose positron emission tomography, showed congruent findings, pointing toward one single left occipital epileptogenic zone (EZ). We performed a left occipital lobectomy, using intraoperative electrocorticography to confirm the boundaries of the EZ. After surgery, the patient has remained seizure free, and both cognitive and motor developments have improved. Histopathology of the resected brain tissue showed FCD type Ia. Resective epilepsy surgery can have a very good outcome, also in patients with genetic mutations in COL4A1, constituting a less invasive option than the previously used more radical surgical procedures such as hemispherectomy.

Keywords

genetic epilepsies - focal cortical dysplasia - malformations of cortical development - collagen - FCD

Full Text

References

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