[P2-111] A case of epileptic encephalopathy due to mutation of COL4A1 gene, successfully treated with functional hemiepherotomy
[Introduction] The infantile spasms associated with COL4A1 mutation have been reported only in one patient in the literature, where the patient was managed by anti-epileptic drugs although clinical information has not been described in detail. Here we report on the clinical course of a patient carrying a de novo mutation of COL4A1 associated with epileptic encephalopathy, who was successfully treated with functional hemiepherotomy
[Case]A 4-year-old girl was suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. After functional hemiepherotomy, she has been seizure free with no intracranial hemorrhage or other perioperative complications. Molecular analysis of trio samples was performed using next-generation sequencing to investigate an etiology of the epileptic encephalopathy, which identified the COL4A1:c.4738G>A point mutation (p.Gly1580Ser). This mutation was not detected in her parents.
[Discussion] COL4A1 mutations are responsible for a diffuse small vessel disease of the brain, furthermore, there are no specific therapies available for this condition at present. Therefore, a neurosurgical treatment may have an increased risk of intracranial haemorrhages in the patients with mutations in COL41A. One patient with a COL4A1 mutation reportedly underwent a complete corpus callosotomy without intracranial hemorrhage or other perioperative complications. This case and our case are suggesting that epilepsy surgery in patients with a COL4A1 mutation may not be absolutely contraindicated.
[Conclusion] After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated.
[Case]A 4-year-old girl was suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. After functional hemiepherotomy, she has been seizure free with no intracranial hemorrhage or other perioperative complications. Molecular analysis of trio samples was performed using next-generation sequencing to investigate an etiology of the epileptic encephalopathy, which identified the COL4A1:c.4738G>A point mutation (p.Gly1580Ser). This mutation was not detected in her parents.
[Discussion] COL4A1 mutations are responsible for a diffuse small vessel disease of the brain, furthermore, there are no specific therapies available for this condition at present. Therefore, a neurosurgical treatment may have an increased risk of intracranial haemorrhages in the patients with mutations in COL41A. One patient with a COL4A1 mutation reportedly underwent a complete corpus callosotomy without intracranial hemorrhage or other perioperative complications. This case and our case are suggesting that epilepsy surgery in patients with a COL4A1 mutation may not be absolutely contraindicated.
[Conclusion] After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated.