SY. DRAVET – ATIPIČNI OBLIK TEŠKE MIOKLONE EPILEPSIJE DOJENAČKE DOBI

Autor: Ivona Močenić, Ognjen Mladinov, Mladen Jašić, Renata Kmet, Dejvis Močenić
Jazyk: chorvatština
Rok vydání: 2015
Předmět:
Zdroj: Glasnik pulske bolnice
Volume 12
Issue 12
ISSN: 1845-2698
Popis: Purpose of this case report is to present patients in the age is 16.9 years with a rare atypical form of severe myoclonic epilepsy (SME) in infancy and poor outcome. The disease occurred in mild-infancy in form of repeated, lengthy hemiconvulsions, clonic or generalized tonic-clonic convulsions caused by fever, which had little reaction to a small applied anticonvulsive drugs. Current age of little and preschool children frequently appeared focal motor, generalized tonic-clonic seizures and with or without fever. Myoclonic nor atypical apsans attacks were not reported by any. The attacks were extremely stubborn on polytherapy. Were used at least 2 or 3 drugs simultaneously, and experienced all of our available antiepileptics and ketogen diet. The success of applied treatment was partial. In the second and third years reveals a very slow speech development, behavioral hyperactivity prevails with autistic elements. The motor is characteristically awkwardness (clumsiness). EEG recording was made several times in wakefulness, drowsiness and sleep disrupted showed a moderate basic activity with multifocal primary focal changes. Neither one revealed no generalized paroxysmal changes as well as paroxysmal response to fotostimulation. Neuroimagine search: CT brain was normal and MR of brain showed a small arachnoid cyst on the left temporo-basal to the other normal finding. Genetic analysis revealed a mutation in exons 12 SCN1A gene corresponding to the clinical syndrome of severe myoclonic epilepsy in infancy. The same analysis in the parents showed normal findings indicating the occurrence of fresh mutations in patients (de novo). The patient continues to have daily uncontrolled generalized tonic and / or clonic seizures, focal motor less frequently, usually during sleep, lasting 1-2 minutes, taking in therapy topiramat, klobazam, stiripentol. Expressed as moderate to severe mental retardation. The boy can not speak, but their demands expressed by mimics and gestures, self-moved, but it is extremely awkward (clumsy) with atactic walk. The participant is a school for children with special needs and is completely dependent on the care of another person.
Databáze: OpenAIRE
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