SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation.
Brain Dev
; 43(7): 804-808, 2021 Aug.
Article
em En
| MEDLINE
| ID: mdl-33827760
ABSTRACT
INTRODUCTION:
SCN8A-related epilepsy has various phenotypes. In particular, patients with developmental and epileptic encephalopathy (DEE) are resistant to antiepileptic drugs and may present with autonomic symptoms, such as marked bradycardia and apnea during seizures, and thus have an increased risk of sudden death. Herein, we report a case of very severe SCN8A-related epilepsy necessitating cardiac pacemaker implantation because of repetitive ictal asystole. CASE REPORT The patient was a 14-month-old girl. Tremor and generalized tonic seizure occurred after birth. During seizures, bradycardia and perioral cyanosis occurred, and then, after developing tachycardia and apnea, marked bradycardia and generalized cyanosis occurred, which sometimes resulted in ictal asystole requiring cardiopulmonary resuscitation. Her seizures were refractory to antiepileptic drugs. As the seizures requiring resuscitation did not decrease, cardiac pacemaker implantation was performed four months after birth. Exome sequencing revealed a heterozygous de novo variant in SCN8A (NM_014191.3c.4934T>C,p.(Met1645Thr)). Even though phenytoin was effective, seizures with bradycardia remained approximately once a month, and pacemaker activity was observed.CONCLUSIONS:
This is, to our knowledge, the first reported case of SCN8A-related DEE in whom pacemaker implantation was performed. Pacemaker implantation should be considered as a treatment option for critical patients with SCN8A-related DEE as in the present case, because the incidence of sudden unexpected death in epilepsy is reported to be approximately 10% in patients with SCN8A-related DEE.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Marca-Passo Artificial
/
Encefalopatias
/
Epilepsia
/
Canal de Sódio Disparado por Voltagem NAV1.6
/
Transtornos do Neurodesenvolvimento
/
Parada Cardíaca
Tipo de estudo:
Etiology_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article