Congenital Brain Malformation (Lissencephaly) with Drug-Resistant Structural Multifocal Epilepsy and Severe Motor Impairment: a Case Report

Abstract

Lissencephaly is a severe cortical malformation associated with impaired neuronal migration. Clinically, it may manifest with early-onset epileptic seizures, marked psychomotor developmental delay, muscle tone abnormalities, and persistent motor deficit []. PAFAH1B1-associated forms are characterized by a broad phenotypic spectrum, including feeding difficulties, poor head control, spasticity, visual impairment, and a high frequency of drug-resistant epileptic seizures.The presented case demonstrates a congenital brain malformation associated with severe motor impairment (GMFCS V/ MACS V), drug-resistant structural multifocal epilepsy, pseudobulbar syndrome, chronic aspiration syndrome, nutritional insufficiency, and neurogenic dysfunction of the pelvic organs.The aim of this case report is to demonstrate the importance of comprehensive multidisciplinary assessment in a patient with lissencephaly, drug-resistant epilepsy, and multiple somatic complications, as well as the need for careful interpretation of genetic findings until familial validation of the identified variant is completed.