We present the clinical case of patient with epilepsy, developmental retardation and hearing loss. The whole exome sequencing allowed to reveal compound heterozygous variants  of the nucleotide sequence in SPATA5 gene (c.1714+1G>A, c.1678G>A). Mutations in the SPATA5 gene have been described  in patients with epilepsy, hearing loss and mental retardation  syndrome (MIM 616577). Paired parents were carriers of one  heterozygous gene variant. Such mutations lead to the  development of epileptic disorders in 3% of cases, and should be  considered in patients not only as a possible cause of  neurodegenerative diseases, but also leading to pathology with  clinical manifestations mimicking mitochondrial disease.

The experience of the treatment of 111 patients with limb injuries accompanied by the damage of the peripheral nerves is presented. For the treatment of posttraumatic neuropathies physiotherapeutic methods, exercise therapy, massage, drug therapy were used. In 65 patients the treatment complex included intraosseous administration of drugs (novocain, nospanum, vitamin В 12, rhe- opolyglukin and rheogluman). The analysis of the results showed that intraosseous blockades promote the elimination of the changes in the injured extremity and activate the restoration of the nerve trunks thus increasing the efficacy of the complex treatment.

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