Resistant epilepsy in hereditary chromosomal diseases

The aim of the work: to present a clinical description of cases of epilepsy associated with a chromosomal mutation — deletion of chromosome 14. Materials and methods. The authors’ own observations relate to neurological pathology, the leading manifestation of which was resistant epilepsy. Results. The rarity of chromosome 14 deletion, the presence of complications, the high cost of invasive diagnosis, and the variability of the phenotype, including the absence of severe congenital malformations in children with microdeletions, determine delayed diagnosis at the prenatal stage with subsequent difficulties in treatment, medical, and psychosocial rehabilitation of such patients. In case of refractory epilepsy and delayed development of patients in infancy, characteristic of chromosomal microdeletions, genetic counselling and examination of patients should be performed to search for chromosomal pathology. Conclusion. Increasing the awareness of doctors about these forms of pathology will contribute to timely diagnosis and treatment.