Objective. Evaluation of skin sensitivity and analysis of morphological changes in paravertebral muscles and back skin in kyphoscoliotic deformity projection in patients with type 1 neurofibromatosis (NF-1).

Materials and methods. Ten NF-1 patients who underwent surgery to treat kyphoscoliosis were examined. Using an electrical esthesiometer thermal pain sensitivity before the surgery was studied in dermatomes corresponding to the apex of the deformity. Skin and muscle biopsy samples were collected intraoperatively in the projection of the apex of the deformity curve and were subsequently analyzed by light and scanning electron microscopy.

Results. Patients with kyphoscoliosis with underlying NF-1 were characterized by abnormal thermal pain sensitivity, pathological structural changes in skin and muscles accompanied by disrupted innervation and blood supply.

Discussion. The observed changes may be responsible for lowered postoperative reparative potential of tissues and they must be considered in prevention and prognosis of treatment and rehabilitation efficacy.

Background. Hereditary motor and sensory neuropathies (HMSN, Charcot–Marie–Tooth disease) form genetically heterogenous and clinically polymorphic group of diseases which predominantly affect peripheral nervous system. Correct primary diagnostics of these diseases is a starting point for planning subsequent molecular and genetic diagnostics.

Objective. Analysis of primary diagnostics of HMSN for subsequent improvement of specialized medical and genetic help for patients and their families.

Materials and methods. We analyzed 260 primary diagnoses of patients referred to a neurogeneticist for consultation and registered in the Genetics Consultation Clinic with the diagnosis of HMSN between 1970 and 2016.

Results. A total of 17 variants of referral diagnoses of patients with HMSN were identified. They can be divided into 3 subgroups: hereditary diseases of the nervous and neuromuscular systems, other diseases of the nervous system, diseases of other systems. A correct diagnosis was listed in a little more than half (58.1 %) of all cases of primary referrals. The most common (10.8 %) erroneous referral diagnosis of patients with HMSN was Friedreich’s ataxia. Most of erroneous referral diagnoses could be confidently ruled out at the stage of primary clinical diagnosis and after electroneuromyography. Altogether, in the observed period percentage of correct referral diagnoses increased while the specter of erroneous diagnoses decreased significantly which attests to increased doctors’ awareness of HMSN.

Conclusion. In order to improve HMSN diagnostics doctors should pay more attention to analysis of family medical history and perform a clinical examination of all proband’s available relatives.

Background. Headache chronification is associated with significant negative impact on health-related quality of life (QOL). Patients with chronic migraine have decreased QOL and increased headache-related disability, than do patients with episodic migraine. The degree to which these outcomes are connected to disease severity, to the pattern of sociodemographic and comorbidity profiles, such as depression, anxiety and sleep disturbances, are unclear.

Objective. To assess QOL and to identify predictors of its reduction in patients with chronic migraine.

Materials and methods. 160 outpatients with migraine were recruited from a headache center and completed self-report questionnaires including the Headache Impact Test 6 (HIT-6) to assess QOL, Migraine Disability Assessment (MIDAS), Beck depression inventory, Spilberger–Khanin anxiety questionnaire, and Subjective sleep characteristics assessment questionnaire (SSCA). We used multiple regression analyses to obtain QОL predictors and path analysis model to identify relationship between the variables.

Results. Patients with chronic migraine (n = 90) had very poor QOL, more severe migraine and comorbid disorders, than did patients with episodic migraine (n = 70). The strongest predictor of the QOL score was the Beck depression inventory score (β = 0.383; p < 0.001) and SSCA questionnaire score (β = –0.341; p < 0.001); followed by the MIDAS score (β = 0.301; p < 0.001), female gender (β = 0.198; p < 0.001), headache intensity (β = 0.173; p < 0.001), attack duration (β = 0.169; p = 0.001), headache frequency (β = 0.150; p = 0.015). Scores of Beck depression inventory, SSCA questionnaire, MIDAS, and headache features (frequency, duration, intensity) had a direct effect on the QOL.

Conclusions. Depression and sleep disturbance appear to impair QOL as strong as the severe clinical manifestations of migraine.

Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders of the peripheral nervous system and internal organs. One of the rarest mutations of the transthyretin gene is tyrosine substitution for cysteine in position 114 (Tyr114Cys). One of the described characteristics of ATTR is the discordant phenotype in monozygotic twins. We present a case of ATTR Cys 114 in a Russian family with a pair of monozygotic twins discordant for ATTR.