The contribution of diet therapy in the treatment of epilepsy in a child with primary lactase deficiency

Epilepsy in children is a heterogeneous group of diseases based on complex interactions of genetic, metabolic, and environmental factors. Of particular interest are the forms of epilepsy associated with mutations of sodium channel genes, in particular SCN1A, which determine the spectrum of disorders united by the concept of “genetic epilepsy with febrile seizures plus” (GEFS+). Despite the genetic nature of the syndrome, the course of the disease can be modified by additional triggers, including nutritional characteristics and the state of the intestinal microbiota. The article presents a clinical case of a 6-year-old boy with genetic epilepsy with febrile seizures plus (GEFS+) associated with the SCN1A mutation, in whom the course of the disease was complicated by primary lactase deficiency. The patient had pharmacoresistant convulsive activity with early onset and frequent afebrile seizures, despite combined antiepileptic therapy. An extended diagnostic search revealed a polymorphism of the MCM6 gene, confirming primary hypolactasia. Taking into account the correlation of exacerbations with the use of dairy products, their complete elimination was carried out, which led to a decrease in the frequency of seizures by more than 70% and an improvement in the cognitive and behavioral profile of the child. The case highlights the need for an interdisciplinary approach in treatment-resistant forms of epilepsy in children.

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