A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett

Author Info

Aizeddin A. Mhanni Cheryl R. Greenberg Jessica N. Hartley Juan Pablo Appendino Tyler Peikes

Corresponding Author

Juan Pablo Appendino
Department of Pediatrics, Cumming School of Medicine, University of Calgary, Alberta Children’s Hospital, Calgary, Canada

A B S T R A C T

CDKL5 Deficiency Disorder (CDD) or CDKL5-associated epileptic encephalopathy (CAEE) is a distinct X-linked dominant epileptic encephalopathy that shares many features with Rett syndrome. In the past decade, mutations in CDKL5 gene were identified as part of the molecular heterogeneity of MECP2- negative Rett syndrome. CDD has increasingly gained recognition as a distinct molecular and clinical phenotype. Here we present four new patients with CDD: one with a clinical presentation of reflex seizures previously reported as a case report by the same group, and three cases with novel disease-causing mutations. The emerging distinct phenotype of CDD should allow the clinician to suspect the diagnosis early and avoid a lengthy diagnostic odyssey.

Article Info

Article Type

Case Series

Publication history

Received: Mon 30, Mar 2020
Accepted: Fri 17, Apr 2020
Published: Thu 30, Apr 2020

Copyright

© 2023 Juan Pablo Appendino. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.GG.2020.01.02