Dados do Trabalho

Título

ATYPICAL DRAVET BY PCDH19: CASE REPORT

Apresentação do caso

Case report


M.M.O, female, 3 years old, non-consanguineous parents, without neonatal complications, with language delay and social deficit. At 4 months of age, presented the first generalized tonic-clonic convulsive crisis associated with fever, after vaccination. She involved with refractory epilepsy with atypical absence seizures, myoclonus and focal seizures. She had several admissions to the intensive care unit due to status epilepticus. The electroencephalogram showed slightly disorganized baseline activity and no records of epileptiform paroxysms, and skull MRI showed no alterations. Genetic research was investigated, which identified protocadherin 19 mutation (PC-DH19). She had characteristics of the autism spectrum disorder, lacks adequate socialization and functional speech. She used Levetiracetam at a maximum dose (60mg/kg/day) without seizure control. She presented with drug-induced hepatitis with Valproic Acid at a dose of 18mg/kg/day and Phenobarbital before the genetic diagnosis. Currently, she is using cannabidiol 10mg/kg/day and is starting Stiripentol 20mg/Kg/day with partial control of the crises.

Discussão

PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases.It shares many features with Dravet syndrome (DS): age at onset, normal development before onset, fever sensitivity, cognitive impairment during disease activity, refractory epilepsy.

Comentários finais

To date, clinical studies of Stiripentol have always focused on DS. The design of new epileptic syndromes, such as PCDH19-related epilepsy, opens up new scenarios for the use of this medication

Referências (se houver)

Palavras Chave

dravet, epilepsy, PCDH19

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

não

Área

Epilepsias