Epilepsy in a boy

The fund was approached by a family in which a baby was born to healthy parents without any external pathological manifestations. The boy's face was unlike his parents (wide mouth, relatively sparsely spaced teeth), but they did not consider this to be anything special. At the age of one year, epilepsy attacks appeared. Gradually, parents and doctors began to notice a delay in psychomotor development, which was associated with the presence of epilepsy. The selection of antiepileptic drugs did not stop epilepsy attacks. The genetic cause of epilepsy was suspected, a genetic study of a panel of genes for epileptic syndromes was carried out - no changes were detected. Because of the features on the electroencephalogram, it was assumed that the child has West syndrome. Hormone therapy was recommended, which is indicated for children with this diagnosis. Parents, worried about the appointment of hormones, and seeing that against the background of not very frequent, outwardly not terrible convulsive seizures, the psychomotor development of the child suffers, they turned to a geneticist, who recommended a genome-wide study. As a result of the genome study, the diagnosis of West syndrome was rejected, a rare genetic breakdown was found, which not only fully explained the entire clinical picture observed in the child (permanent smile, epileptic seizures, developmental delay), but also affected his further treatment: with this diagnosis the appointment of hormone therapy is contraindicated, some anticonvulsants are not to be prescribe (but the child used one of them, so the drug intake was immediately canceled). Most importantly, a treatment has been developed for the identified syndrome, which is currently at the final stage of clinical trials in children. Therefore, parents are informed about the possibility of participating in a clinical trial and about the upcoming official registration of the drug for the genetic disease of their child.