Понтоцеребеллярная гипоплазия типа 2А

Abstract

Objective of the Paper: Show the importance of genetic diagnosis in children with movement disorders. Key points. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of autosomal recessive neurodegenerative diseases. They are characterized by a beginning in the prenatal period, a slowdown in the growth of the cerebellum, frontal and occipital cortex of the cerebral hemispheres, and microcephaly. The disease manifests itself from birth and is steadily progressing. PCH2A is the most part of the described variant of the disease. It is characterized by moderate respiratory disorders, swallowing disorders, dyskinesia at rest, choreic hyperkinesias, muscle spasticity, pharmacoresistant epilepsy and progressive microcephaly. To date, about 80–100 cases have been described. An own observation of a patient with pontocerebellar hypoplasia of type 2A is presented. The girl noted a slowly progressive violation of motor, speech and mental development of a severe degree of severity, epileptic seizures and extrapyramidal paroxysms. Conclusion. Timely genetic diagnosis in children with the phenotype of microcephaly and cerebral palsy allows reaching an etiological diagnosis, determining treatment tactics, rehabilitation prognosis and helps in the future to plan the birth of healthy children in the family. Keywords: pontocerebellar hypoplasia type 2A, TSEN54 gene, secondary paroxysmal dyskinesia, cerebral palsy, epilepsy, prognosis.