Naslov
Hemimegalencephaly and Epilepsy.

Autori
Đuranović, Vlasta ; Pejić Roško, Sanja ; Ereš, Zrinka ; Vulin, Katarina ; Tripalo Batoš, Ana ; Grmoja, Tonći ; Đaković, Ivana ; Sekelj Fureš, Jadranka ; Lončar, Lana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
13th European Paediatric Neurology Society (EPNS) Congress, 17-21 September 2019, Athens, Greece, Abstract book / - , 2019, 163-163

Skup
13th European Paediatric Neurology Society (EPNS) Congress, 17-21 September 2019, Athens, Greece

Mjesto i datum
Atena, Grčka, 17.09.2019. - 21.09.2019

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
hemimegalencephaly ; epilepsy

Sažetak
Introduction: Hemimegalencephaly (HME) is a rare congenital disorder of cortical formation with hamartomatous overgrowth of all or a part of a cerebral hemisphere. HME is divided into three forms: isolated, syndromic (associated with a variety of syndromes typically including hemihypertrophy of the ipsilateral part of the body) and total HME (hemihypertrophy also involves the brain stem and cerebellum). The consequences of asymmetric brain development are contralateral hemiparesis, developmental delay and intractable epilepsy. Recent studies have demonstrated the association of HME with the mutations of AKT3, PK3CA and mTOR genes. mTOR pathway activation causes excitability of neurons, which explains the occurrence of epilepsy in patients with HME. Methods: This small case-series includes six children with different types of HME and epilepsy treated in the Children’s Hospital Zagreb. Results: Out of the six children (3 male and 3 female), three had isolated HME, with the onset of convulsions in the first days of life. In 2/3 (with tonic seizures and a “burst-supression” pattern in EEG) there was Ohtahara syndrome and the third child (with persistent myoclonic and tonic seizures) had extreme megalencephalia with hypertrophy of right hemisphere and accelerated head growth dynamics of 1 cm per week. Two children had syndromic HME (Klippel- Trénaunay-Weber and Epidermal nevus syndrome) and one child (with myoclonic seizures) had total HME, with hemihypertrophy of cerebellum and brain stem. All our patients had refractory epilepsy, psychomotor retardation, and contralateral hemiparesis. Conclusion: In patients with HME treatment is targeted to the control of epilepsy, which can be difficult to manage medically. In refractory cases, hemispherectomy or new therapy with mTOR inhibitors should be considered.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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