Vol 6, No 2 (2016)

Diabetes mellitus is a widespread disease often affecting peripheral nervous system. This include diabetic autonomous neuropathy that can endanger the patient's life. Timely detection of complications of diabetes mellitus as well as its adequate therapy can improve prognosis of the disease. The possibilities of Milgamma and Tiogamma for pathogenic therapy in patients with diabetic polyneuropathy are considered in this paper. Gabagamma can be effectively relieve neuropathic pain and used together with other drugs that normalize nerve tissue metabolism.

Background. Management of the myasthenic crisis remains one of the issues in clinical neurology.

Objective. Analysis of the timeframes of the myasthenic exacerbation since the disease onset, sex distribution, age predominance, specific clinical features, precipitating factors in order to investigate the efficacy of the management algorithm of the myasthenic crisis.

Materials and methods. Medical histories of 33 female and 19 male patients with myasthenia for the period of 2000 to 2003 were analyzed.

Results. In comparison with the literature data the number of mysthenic crisis in myasthenic patients was lower and did not exceed 25 %. Sex distribution 1,2 (male): 1 (female). In 70 % worsening of myasthenia appeared in the first two years of the disease: in 6 patients (46.2 %) at the age of 22–35 y. o.; in 5 patients (38.5 %) – at the age of 36–60 y. o. All patients suffered from generalized myasthenia, in three of them ocular and bulbar muscle weakness predominated. In 46.2 % of patients with crisis, thymus abnormalities were present (thymoma / hyperplasia). The most common precipitating factors were: infection (36.9 %), stress (26.3 %), misuse of the anticholinesterase drugs (15.8 %). In 5.2 % the worsening of myasthenia followed the delivery. The crisis triggering factor was not identified in 15.8 % of cases.

Conclusion. In order to prevent the exacerbation of myasthenia, generalized forms of myasthenia with poor response to anticholinesterase drugs require special attention towards patients in their first two years of the disease, including patient’s educational program on appropriate mode of drug administration and avoiding initiating factors, as well as thymectomy.

Hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth disease) is a group of genetically heterogeneous disorders with more than 80 genes linked to different phenotypes, including IGHMBP2 gene responsible for HMSN type 2S (OMIM 616155). Until recently, mutations in IGHMBP2 were exclusively associated with neonatal distal spinal muscular atrophy with respiratory distress (SMARD1, OMIM 604320). A case report presents a boy with infant onset decreased distal muscle tone and weakness, distal wasting and deformation in legs and hands, areflexia and decreased sensation without respiratory involvement; at age seven he had severe fixed kypho-scoliosis. EMG revealed signs distal axonal neuropathy. The exsome sequencing confirmed the allelic variant of two compound heterozygous mutations in gene IGHMBP2: known missens mutation с.1616С>Т (р.Ser539Leu) in exone 11 and a novel deletion с.2601_2602delGA in exone 13. The diagnosis of infant HMSN type 2S was confirmed. The phenotype of HMSN type 2S and its diagnostics differences between SMARD1 are discussed.