engleski

Which attitude to adopt when the molecular analisys prove the diagnosis of Dravet syndrome before the clear clinical picture – case report

INTRODUCTION. Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. At healthy, develop-mentally normal infant, convulsive status epilepticus, febrile or afebrile seizures occur at around 6 months of age, generally triggered by fever, illness or vaccination. Between 1 and 4 years subsequently other types of seizures occur with developmental regression. Initially normal EEG shows pathological findings after 2 years of age. Imaging and neurometabolic work up are non informative. DS is as-associated in >85% of patients with anomalies of the gene SCN1A at chromosome 2q24, encoding the alpha-1 subunit of voltage gated sodium channel NaV 1.1. Mutations arise de novo in 90% of DS. CASE STUDY. The boy was born from unrelated parents after the first uneventful pregnancy and delivery induced by oxytocin. From the paternal side the family history was positive for simple febrile seizures. Because of Apgar score 6/6 and neuro risk ultrasounds of the brain and heart were performed, a rehabilitation was initiated according to the Bobath concept. At the age of 7 months and 9 days, after the IIIrd DTaP-IPV-Hib-Hepatitis B vaccination, the first febrile seizures occurred. Till the age of 17 months the boy had eight times febrile seizures, only once duration of the attack was 55 minutes. After the second febrile seizures phenobarbital was introduced, replacing by valproic acid after the fifth attack. With the good collaboration of the parents, Department of Medical Genetics of the University Hospital of Antwerp and Croatian Health Insurance Fund, at the age of 10, 5 months the molecular analysis was performed and showed the presence of the heterozygous c.5017delA (p.11e1763Serfs*7) mutation in exon 26 of the SCN1A gene, not described before, demonstrating de novo mutation. CONCLUSION. Our boy aged now 1, 5 years, with normal psychomotor development, had seven febrile seizures and one epileptic status. In the research literature on DS we couldn't find any suggestions about the introduction of the combination of stiripentol, valproic acid and clobazam in the boy aged 12, 5 months, in order to avoid a status epilepticus in a future. Stiripentol was obtained for the boy, even this AED is not registered in Croatia. The aim of this case report is to ask advice and suggestions.

molecular analisys ; Dravet syndrome ; clinical picture

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