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Clinical and Evolutionary Aspects of CDKL5-Related Developmental Epileptic Encephalopathy: A Case Report

Year: 2026

Type: article

Abstract: Cyclin-Dependent Kinase-Like 5 (CDKL5) Deficiency Disorder (CDD) is a rare genetic condition characterized by early-onset, pharmacoresistant epilepsy and severe global developmental delay. We report the case of a five-month-old infant who developed epileptic spasms at three months of age. Despite multiple antiepileptic therapies, seizures remained refractory. The clinical course was marked by persistent daily seizures and profound neurodevelopmental impairment. Genetic testing confirmed a pathogenic mutation in the CDKL5 gene. This case highlights the severity of CDD, with early-onset epilepsy, poor response to conventional treatments, and significant developmental delay. The diagnosis relies on genetic confirmation, which is crucial for patient management and genetic counseling. CDKL5-related developmental epileptic encephalopathy represents a severe and complex disorder. Early recognition and genetic testing are essential to optimize care, guide family counseling, and contribute to the understanding of disease progression.

Source: Cureus

DOI: 10.7759/cureus.108475

Authors: Soukayna Setouani, Kawtar Khabbach, Afaf Lamzouri, Yousra El Boussaadni, Abdallah Oulmaati

Institution: Centre Hospitalier Universitaire Mohammed VI

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7160642203