Clin Pediatr | Volume 1, Issue 1 | Case Series | Open Access
Carlotta Spagnoli*, Grazia Gabriella Salerno, Daniele Frattini and Carlo Fusco
Department of Pediatrics, Santa Maria Nuova Hospital-IRCCS, Italy
*Correspondance to: Carlotta Spagnoli
Fulltext PDFIntroduction: KCNQ2 encephalopathy is a developmental encephalopathy characterized by neonatal-onset pharmacoresistant epilepsy with good response to sodium channel blockers, severely abnormal background EEG activity, and severe developmental delay. In spite of confirmation of this consistent and typical electro clinical syndrome, a broader spectrum of findings has been described.
Methods: We report our experience with two cases of genetically-confirmed KCNQ2 encephalopathy.
Results: Our two patients, followed-up for 2 and 9 years respectively, show typical clinical and neuroimaging findings, although some peculiarities can be recognized: The first cases developed a Rett-like neurodevelopmental phenotype, while the second patient (already described) had a neonatal ictal EEG reminiscent of epilepsy of infancy with migrating focal seizures and molecular analysis showed a pathogenic de novo deletion, which is an extremely rare finding in KCNQ2 encephalopathy. Conclusions: Our cases further delineate the electroclinical and genetic heterogeneity in patients with KCNQ2 encephalopathy. Additional insights can be expected from the widespread availability of genetic testing in clinical practice.
Spagnoli C, Salerno GG, Frattini D, Fusco C. Two Cases of KCNQ2 Encephalopathy with Unusual Findings: Clinical and Neurophysiological Follow-Up. Clin Pediatri. 2018; 1: 1001.