CDKL5 Mutation-Associated Epileptic Encephalopathy Case

CDKL5 (Cyclin-dependent kinase-like 5) mutation causes clinical syndrome called 'Developmental and Epileptic Encephalopathy 2', which is characterized by drug resistant seizures starting in the first year of life, psychomotor developmental delay, cortical visual impairment, dystonic movements and stereotypical hand movements like Rett Syndrome. Majority of patients are girls. Although similar clinical findings are seen in girls and boys, the disease shows more severe clinical course in boys. The CDKL5 gene is located on the X chromosome (Xp22.13) and its mutations are inherited in X-linked dominant manner. Cerebral, cerebellar atrophy, and corpus callosum abnormalities may be found on brain magnetic resonance imaging (MRI). In this article, we present a female patient with seizures begining at the age of 4 months, psychomotor developmental delay and stereotypic movements, diffuse spasticity, and normal brain MRI. Definitive diagnosis of the patient was made by detection of CDKL5 mutation in Whole Exome Sequencing (WES) analysis. CDKL5 mutation should be kept in mind in the differential diagnosis of patients with stereoeotypical hand movements, drug resistant seizures and neuromotor developmental delay.
Keywords: Developmental and epileptic encephalopathy2, Cyclin-dependent kinase-like 5, CDKL5, epileptic encephalopathy