Dados do Trabalho

Título

EPILEPTIC ENCEPHALOPATHY RELATED TO THE KCNT1 GENE PHARMACORESISTANT WITH RESPONSE TO THE USE OF CANNABIDIOL

Apresentação do caso único

Infant, with no relevant family or perinatal history, began at 4 days of life episodes of rhythmic movements in the upper limbs, sometimes on one side, sometimes on the other, blinking, swaying movements, lasting around 30 seconds, around 40 times a day . Hospitalization was carried out and phenytoin, phenobarbital and levetiracetam were started, maintaining convulsive escapes. The patient developed status epilepticus and required intubation with continuous use of midazolam, in addition to topiramate and pyridoxine. EEG with "presence of epileptogenic activity over the bilateral centro-temporo-occipital region". Due to seizure control and extubation, phenytoin was weaned and other anticonvulsants were maintained, but leaks returned. It was decided to increase the doses of topiramate and phenytoin, and weaning of phenobarbital began, although leaks continued. The patient developed a convulsive episode followed by a decrease in the level of consciousness, requiring new intubation and the return of continuous midazolam. A ketogenic diet was started, carbamazepine was introduced and topiramate was weaned, and the patient was discharged from hospital after partial seizure control. The patient underwent expanded neonatal screening with mass spectrometry with normal results and NGS Panel for Epilepsies with CNV Analysis, identifying the pathogenic variant NM_020622.3:c.1283G>A;p.(Arg428Gln) in the KCNT1 gene in heterozygosity. A diagnosis of childhood epilepsy with focal migratory seizures associated with KCNT1 mutations was made, outpatient follow-up was initiated, and the decision was made to start cannabidiol, associated with a reduction in the dose of other anticonvulsants, with a reduction of approximately 90% in frequency of convulsive escapes.

Discussão

Childhood epilepsy with focal migratory seizures is a rare encephalopathy, with polymorphous focal migratory seizures, resistant to even combined treatment, which evolve with almost continuous seizures and deterioration in development. After the introduction of cannabidiol and its dose progression (from 4.4mg/kg/day to 7.7mg/kg/day) the patient can reduce doses of clobazam, carbamazepine and levetiracetam, evolving with a reduction in the frequency of leaks, without side effects. important collaterals. The indicated therapy, however, did not interfere with neurodevelopmental gains.

Comentários finais

This is one of the few reports of cannabidiol use in this etiology, with diagnosis made by clinical criteria confirmed by genetic tests.

Referências

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Palavras Chave

KCNT1; cannabidiol; EPILEPTIC-ENCEPHALOPATHY