Case report of a patient with epileptical and developmental encephalopathy and genome eviding heterozygosis in the PACS2 exon 13 gene

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Abstract

Case Presentation: This is a female patient, 13 years old, from Salvador (BA). The child started with delayed neuropsychomotor development and at the age of 3, focal seizures started. Seizure control was attempted with several antiepileptic drugs, including phenobarbital, valproic acid, levetiracetam, carbamazepine, topiramate and clobazam, without adequate response. She is currently using lamotrigine and clonazepam, with partial seizure control. For diagnostic investigation, the patient underwent initial screening for inborn errors of metabolism (lactate dosage, venous gasometry, amino acid chromatography), which was negative. She underwent magnetic resonance imaging of the skull, showing areas of bilateral enfelomalacia in the occipital region and dysgenesis of the corpus callosum. During genetic investigation, she carried out a genome, which showed a probably pathogenic variant in heterozygosis in the PACS2 exon 13 gene. Currently, the patient is clinically stable, with partial control of epileptic seizures, still with significant cognitive impairment.

Discussion: Epilepsy is a common neurological disorder of childhood, sometimes associated with developmental delay/intellectual disability. The epileptic and developmental encephalopathies are a group of severe childhood-onset epilepsies characterized by developmental delay or regression in the context of recurrent seizures. Variants in several genes have been associated with epilepsy to date, with a variety of inheritance patterns or de novo mutations. The identification of pathogenic genetic variants related to epileptic disorders continues to be important, allowing a more precise definition of the clinical diagnosis, precise genetic counseling and precise therapy in some cases.

Final Comments: Epileptic and developmental encephalopathies are important conditions in neurological clinical practice and can cause difficult-to-control epilepsy, developmental delay and cognitive alterations. Some of these encephalopathies have a genetic basis that has not yet been described, but which may be pathogenic variants.