Neuromuscular Diseases (E-Journal) / Нервно-мышечные болезни
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Миастенический синдром Ламберта–Итона на фоне беременности с развитием транзиторного миастенического синдрома новорожденного
Get PDFМатериалы конференции «Дифференциальный диагноз в клинике нервно-мышечных болезней», 28–29 марта 2014 г.
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К вопросу о значимости дозировки препаратов в ферментозаместительной терапии при болезни Фабри
Get PDFБолезнь Фабри (БФ) – X-сцепленное заболевание, обусловленное мутациями в гене, кодирующем лизосомальную гидролазу α-галактозидазу А, при котором происходит прогрессирующее накопление в лизосомах глоботриаозилцерамида и связанных гликосфинголипидов. У пациентов мужского пола с классическим фенотипом болезни заболевание клинически манифестирует в детском или подростковом возрасте и характеризуется несколькими симптомами, в том числе нарушением почечной функции, цереброваскулярными осложнениями, сердечной недостаточностью и в конечном счете преждевременной смертью
Синдром опсоклонуса–миоклонуса
Get PDFThis article provides an overview of the Russian and foreign studies on paraneoplastic opsoсlonus-myoclonus syndrome. Opsoclonus is characterized by involuntary, arrhythmic, chaotic, multi-directional saccades with horizontal, vertical and torsional components, and it is commonly accompanied by cerebellar ataxia and myoclonic jerks in the trunk and limbs. It is a rare neurological disorder of unknown causes which appears to be the result of an autoimmune process involving the nervous system. Paraneoplastic opsoсlonus-myoclonus syndrome is most commonly associated with small-cell lung cancer, breast cancer, ovarian cancer, non-Hodgkin's lymphoma, renal adenocarcinoma. In children, a neuroblastoma is detected in approximately 50% of cases. Many autoantibodies have been detected in patients with paraneoplastic opsoсlonusmyoclonussyndrome: this finding suggests the involvement of a humoral immune mechanism. However, most patients are seronegative for these autoantibodies. Paraneoplastic opsoсlonus-myoclonus syndrome is less responsive to immunotherapy (corticosteroids, intravenous immunoglobulin, adrenocorticotropic hormone, plasma exchange, cyclophosphamide, or rituximab) and improves only with tumor resection. Further studies are needed to further elucidate its immunopathogenesis and pathophysiology in order to develop novel and efficacious therapy
Отчет о конференции «Дифференциальный диагноз в клинике нервно-мышечных болезней» 28–29 марта 2014 г.
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Пациент с болью в спине: возможности терапии
Get PDFLow back pain (LBP) is one of the most common clinical syndromes associated with the high rate of temporary disability and sizable material costs. The choice of adequate therapy for LBP requires that primary diseases that can be responsible for the occurrence of pain should be excluded. While choosing an analgesic, there must be a balance between its efficacy and the possible risk for undesirable side effects. One of the drugs that have proven effective in treating patients with LBP is ketoprofen (ketonal), the diversity of whose formulations allows maximally individualized therapy.Боль в нижней части спины (БНС) – один из наиболее распространенных клинических синдромов, ассоциированный с высокой частотой временной утраты трудоспособности и значительными материальными затратами. Выбор адекватной терапии пациентов с БНС требует исключения первичных заболеваний, способных обусловить возникновение боли. При выборе противоболевого препарата необходимо соблюдать баланс между эффективностью и возможным риском развития нежелательных побочных эффектов. Одним из препаратов, хорошо зарекомендовавших себя при лечении пациентов с БНС, является кетопрофен (кетонал), разнообразие лекарственных форм которого позволяет проводить максимально индивидуализированную терапию
Электромиография в диагностике поражения срединного нерва при синдроме запястного канала у детей с мукополисахаридозами
Get PDFCarpal tunnel syndrome (CTS) is a frequent syndrome in adults, but is very rare in children. CTS was described in children with mucopolysaccharidoses (MPS) as condition due to the deformation of carpal bones, deposition of glycosaminoglycans in tendosynovial tissue and connective tissue of flexor retinaculum. Electromyography is essential method for diagnostic CTS in children because typical symptoms of CTS (paresthesia, numbness of hand and fingers, atrophy and paresis of certain muscles) seen in adults are absent or not realized by children with MPS because of cognitive deficit despite the presence of nerve involvement. EMG results from 40 children with different types of MPS (age 1 year 8 months to 18 years) are presented. Neurophysiologic abnormalities related to CTS were found in every child with MPS I, in 80,9 % of cases – with MPS II and in every case – with MPS VI; no EMG signs of median nerve lesions incarpal channel were detected in patients with MPS III and MPS IV. CTS was bilateral in children with MPS I, II and VI, but usuallythere was an asymmetry of changes. We revealed CTS in one patient with MPS II as early as at the age 2 years 11 months. All children with MPS II had already CTS at the age of 4 years except one patient. Children with MPS I and MPS VI were not investigate before the age 4 years old, but one child 4 years old with MPS I had severe CTS. In children with MPS atrophy of thenar eminence muscles developed rapidly as complication of CTS. Therefore we recommend repeating of EMG regularly to identify earliest signs of median nerve disturbance in carpal channel and opportune surgical decompression of the entrapped nerve. It allows preserving normal function of hand that it is very important for adequate child development and quality of life
