Glasnik pulske bolnice, Vol. 12 No. 12, 2015.
Recenzija, Prikaz slučaja
Sy.Dravet-atypical form od severe myoclonic epilepsy in infancy
Ivona Močenić
orcid.org/0000-0002-9256-3921
Ognjen Mladinov
Mladen Jašić
Renata Kmet
Dejvis Močenić
Sažetak
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.
Ključne riječi
SCN1A gen; severe myoclonic epilepsy (SME); Sy. Dravet
Hrčak ID:
154730
URI
Datum izdavanja:
20.3.2016.
Posjeta: 1.548 *