Background and ObjectivesDevelopmental and epileptic encephalopathies (DEEs) with early burst-suppression EEG (EIDEE-BS) are among the most severe neonatal epileptic syndromes, typically presenting in the first months of life with refractory seizures and profound neurodevelopmental impairment. Although variants in the KCNQ2, STXBP1, and SCN2A genes are recognized as major causes, the full genetic spectrum remains uncertain. We aimed to delineate the electroclinical characteristics, genetic etiologies, and long-term outcomes in a large MRI-negative EIDEE-BS cohort.MethodsWe retrospectively analyzed 110 patients with BS EEG enrolled from a database of 1,540 individuals with suspected genetic epilepsies (2008-2023). Clinical, EEG, and genetic data were systematically collected. Patients were stratified into 4 groups: KCNQ2, STXBP1, "other pathogenic variants," and "without a genetic diagnosis." EEG traces were reviewed independently, and outcomes were assessed through long-term follow-up.ResultsPathogenic or likely pathogenic variants were identified in 62.7% of patients and involved 23 genes, including 2 copy number variants. KCNQ2 (n = 24) and STXBP1 (n = 16) accounted for one-third of diagnoses, whereas SCN2A (n = 3) and KCNT1 (n = 2) were less frequent. In KCNQ2 cases, seizures and BS onset occurred earlier than in STXBP1 cases: mean 2 days vs 6 weeks for seizures and 3 days vs 2 months for BS, respectively. A typical BS pattern (bursts longer than suppressions) strongly correlated with KCNQ2 and STXBP1 variants. Novel associations were found with DPM1, GRIN2A, KCNT2, PIGO, PURA, WWOX, and candidate genes (KMT2E, SNAP25, and SYT1). Most variants were de novo heterozygous; however, recessive and X-linked inheritance patterns were also observed. Mortality was high (25%), primarily from status epilepticus and complications of severe disability. Most patients (72.5%) had persistent seizures at follow-up (a mean of 6.5 years), as well as profound intellectual disabilities, irrespective of genotype.DiscussionThis large series highlights the strong monogenic basis of EIDEE-BS. KCNQ2, STXBP1, and SCN2A were the most commonly affected genes. Early EEG features, particularly BS timing and morphology, can help anticipate the underlying genotype and guide precision therapy, including the early use of sodium channel blockers in selected cases. These findings support recent ILAE reclassification efforts and underscore the importance of comprehensive genomic testing for improved diagnosis and counseling.
Introduction Pulmonary valve (PV) preservation during Tetralogy of Fallot (TOF) repair remains challenging, particularly in patients with small pulmonary annuli. We previously described a standardized and reproducible pulmonary valve–sparing technique based on conservative management of the native valve to preserve its growth potential. We report the mid-term outcomes of the same cohort with extended follow-up. Methods Between July 2015 and December 2019, 23 consecutive children with regular TOF underwent repair using this technique in a single centre. Median age at surgery was 7 months (range: 4.5–150.4; IQR: 4.3) and median weight was 6.7kg (range: 4.8–24.0; IQR: 2.5). Nineteen patients (82%) had a bicuspid pulmonary valve. Median pulmonary annulus diameter was 7.0mm (range: 5.0–14.0; IQR: 2.5), with a median z-score of −2.5 (range: −4.9 to −0.02; IQR: −1.6). The technique combines T-shaped infundibulotomy to release the anterior annulus, extensive commissurotomy following ventricular septal defect closure, and right ventricular outflow tract (RVOT) remodeling using a shield-shaped bovine patch attached to the annulus, creating systolic traction. Results At discharge, all patients had pulmonary regurgitation (PR) less than moderate. After a median follow-up of 60.9 months (range: 8.4–105.1; IQR: 32.6), the median maximal gradient was 21.0mmHg (range: 9.0–46.2; IQR: 11.0), with only one patient having a gradient above 31.0mmHg (46.2mmHg), and all others below 31.0mmHg. At the latest follow-up, severe PR was observed in 4 patients (17%) and moderate PR in 2 patients (8%), while the remaining patients had PR less than moderate. No patient required surgical or transcatheter reintervention on the RVOT. Conclusion This pulmonary valve–sparing approach demonstrates stable mid-term hemodynamic performance despite small annular dimensions at repair. Although progression of PR was observed in a subset of patients, gradients remained acceptable and no RVOT reintervention was necessary.
La dysphagie est un symptôme présent dans de nombreuses pathologies ORL ou œsophagiennes. Le caractère aigu ou chronique, douloureux ou non, le contexte et les signes associés permettent d’orienter la recherche étiologique. En cas de dysphagie aiguë, les infections de la cavité oro-pharyngée sont les causes les plus fréquentes ; une ingestion de corps étranger sera évoquée en cas de dysphagie brutale et isolée chez le petit enfant. En cas de dysphagie chronique non douloureuse située dans l’œsophage, l’exploration de première intention est le transit baryté de l’œsophage (TOGD) à la recherche d’une sténose, d’un autre obstacle, ou de troubles moteurs. En cas de douleur associée, la fibroscopie œso-gastroduodénale (FOGD) est indiquée à la recherche d’une œsophagite peptique, infectieuse ou à éosinophiles.
