Koolen‐de Vries syndrome associated with continuous spike‐wave in sleep

• DOI: 10.1684/epd.2022.1452
• Publication Date: 2022-10-11T20:00:09Z
• Authors: Afsheen Q. Khan; Rohini K. Coorg; Deepak Gill; Carla Marini; Kenneth A. Myers
• Keywords: Ketogenic Diet

Koolen-de Vries syndrome (KdVS) is a genetic condition caused by 17q21.31 microdeletions or pathogenic variants in KANSL1. Affected patients most commonly exhibit some all of the following: neonatal hypotonia, developmental impairment, facial dysmorphic features, and congenital malformations. Epilepsy occurs approximately half, often with phenotypes on epilepsyaphasia spectrum. We describe six children KdVS found to have continuous spike-wave sleep (CSWS) EEG, four whom were diagnosed epileptic encephalopathy CSWS two Landau-Kleffner syndrome. When compared other may present at slightly later ages longer interval between seizure diagnosis identification CSWS. There no clear best treatment for CSWS, but our cohort trialed variation ketogenic diet, both reported clinical improvement. In one patients, response was dramatic, recurred when weaning diet attempted. Based findings, an EEG capturing prolonged period should be arranged any child presenting regression plateau, particularly if they preceding history seizures.