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

Le résumé fourni par la source

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.

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