Dados do Trabalho
EPILEPSY OF MIGRATING FOCAL SEIZURES AND KETOGENIC DIET – A HOPEFUL ASSOCIATION
Apresentação do caso
A healthy male infant, at one month old, started episodes described as ocular eversion and migrating focal involuntary movements, which occurs in cluster without complete recovery of the consciousness between the attacks and with many events per day. Parents denied complications during pregnancy and childbirth, as well as similar cases in the family. Magnetic resonance imaging of the brain and screening for inborn error of metabolism were normal. All several electroencephalogram performed demonstrated assymetrical and severely disorganization of the base activity and abundant, multifocal and independent epileptiform discharges with predominance at frontal, temporal and occipital regions. The genetic panel for epilepsy evidenced one pathogenic variant in heterozygous in the KCNT1 gene. For treatment, we tried many antiepileptic drugs (valproate, clobazam and phenobarbital), without adequate response and in December of 2022 and January of 2023, he evolved to status epilepticus. After genetic tests evidenced alteration in the coding of potassium channels, we performed a therapeutic test with quinidine 5 mg/kg/day associated with ketogenic diet, with satisfactory response. However, due to significant weight loss, it was necessary to suspend the diet, and then crises returned. In March of 2023, we restarted ketogenic diet in the form of industrialized supplement associated with quinidine, valproate, clobazam and phenobarbital with resolution of the crises.
Epilepsy of migrating focal seizures is a rare epileptic encephalopathy (so far, there is only 200 cases described on the literature), caused by a pathogenic variant in the KCNT1 gene. This disorder is characterized by seizures with poor response to various antiepileptic drugs and neurodevelopmental impairment. In our case, we tried many drugs and even quinidine had a poor control of the crises. The adequate control was obtained only with the association of ketogenic diet.
The ketogenic diet is an important option in patients with refractory epilepsy and impossibility to undergo to surgery, with reduction or control of the seizures up to one-third of the patients. The epilepsy with migrating focal seizures can cause severe developmental delay and with this case report, we aim to share this treatment option.
Referências (se houver)
epileptic encephalopathy; KCNT1 gene; migrating focal seizures; neurodevelopmental impairment; ketogenic diet.
Fonte de Fomento (se houver)
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JANAINA MORAES ARAUJ, LILIAN APARECIDA SANSAO, EMANUELLE BIANCHI DA SILVA ROCHA, DEBORA DE CASSIA TOMAZ FERNANDES, RENAN CAMPI GOMES, FELIPE PIRES ALBUQUERQUE, LIVIA PIRES ALBUQUERQUE