THE MITOCHONDRIAL DISEASE NARP SYNDROME IN THE PRACTICE OF A PEDIATRIC NEUROLOGIST

Abstract

Mitochondrial diseases in children are one of the most important interdisciplinary problems in modern pediatrics. The diseases of this group occur due to mutations in nuclear and/or mitochondrial DNA and are manifested by a brain, heart and skeletal muscle lesion (encephalocardiomyopathy). The authors describe a clinical case of NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome in a baby during the first year of life. Early onset in the presence of complete health, the polymorphism of clinical manifestations, such as a central nervous system lesion, muscle weakness, impaired psychomotor development, and seizures, aroused suspicion of the mitochondrial disease; however, the final diagnosis was established by molecular genetic testing. The m8993T>G mutation was found in the MT-ATP6 gene, which confirmed the mitochondrial disease NARP syndrome. The description of the clinical case of the mitochondrial disease in a baby during the first year of life is of real interest to neurologists and pediatricians. Signs, such as the appearance or worsening of initially existing developmental delay in the early period of life, addition of muscle hypotonia with a change in the reflex areas, loss of acquired skills, impaired vision and hearing, and the progressive nature of the disease, may be indicative of the mitochondrial disease and the need to exclude diseases of this group by specific studies, including molecular genetic testing.