Uogólnione wyładowania iglasto-falowe i objawy miokloniczne u grupy dzieci z samolimitującą się epilepsją ze spikami środkowoskroniowymi
Generalized Spike-Wave discharges and myoclonic features in a subgroup of children with Self-Limited epilepsy with centrotemporal spikes
W skrócie
Badanie dotyczy rzadkiej grupy dzieci z epilepsją samoograniczającą się, u których pojawiają się zarówno uogólnione wyładowania elektryczne w mózgu, jak i mimowolne skurcze mięśni. Dzieci z taką kombinacją miały więcej ataków na jawie i obawów mioklonicznych niż pozostałe dzieci z tym rodzajem epilepsji. U niektórych pacjentów z dłuższą obserwacją zaobserwowano ewolucję choroby w kierunku innego rodzaju epilepsji - młodzieńczej epilepsji miokloniczne.
Oryginalny abstract (angielski)
OBJECTIVE: Generalized spike-wave discharges (GSWD) are occasionally observed in patients with self-limited epilepsy with centrotemporal spikes (SeLECTS), but their clinical significance remains unclear. This study aimed to characterize the electroclinical features of these patients and to explore their potential clinical implications. METHODS: We retrospectively reviewed the clinical data of 148 children diagnosed with SeLECTS at Xuanwu Hospital from June 2015 to October 2025. Patients with GSWD on electroencephalography were identified and compared with those without GSWD regarding demographic characteristics, seizure semiology, auxiliary examination findings, treatment response, and outcomes. RESULTS: GSWD were identified in 9 of 148 patients (6.1 %) with SeLECTS. These 9 patients included 4 males and 5 females, with a median onset age of 8 (IQR: 5-10) years. Compared with those without GSWD, they more frequently showed wakefulness seizures (44.4 % vs 5.8 %, p < 0.05), generalized tonic-clonic seizures during sleep (44.4 %), and myoclonic manifestations (77.8 %). Other clinical variables were similar between groups. All 9 patients achieved freedom from focal and generalized tonic-clonic seizures, though one required prolonged combination therapy. Two patients with follow-up exceeding 10 years showed electroclinical evolution toward juvenile myoclonic epilepsy, characterized by the absence of centrotemporal spikes, with generalized spike-wave bursts recurring on later EEGs. CONCLUSION: We identified a subgroup of patients with SeLECTS characterized by the coexistence of GSWD and myoclonic features, showing partial electroclinical overlap with juvenile myoclonic epilepsy. These findings broaden the electroclinical spectrum of SeLECTS, though the relationship between focal and generalized network dysfunction in this subgroup requires confirmation in larger, prospectively followed cohorts.