Ключевые слова: активное сгибание предплечья, длинная головка трехглавой мышцы плеча, артрогрипоз. ВведениеОтсутствие активного сгибания предплечья -одно из наиболее тяжелых нарушений функции верхней конечности у пациентов с артрогрипо-зом. Оно обусловлено фиброзным или фиброз-но-жировым перерождением сгибателей предпле-чья, прежде всего, двуглавой мышцы плеча. Для восстановления активного сгибания предплечья обычно проводят несвободную аутотранспланта-цию мышечных лоскутов большой грудной, широ-чайшей мышцы спины или трехглавой мышцы пле-ча в позицию двуглавой мышцы плеча [1-4, 11, 12]. Однако у пациентов с артрогрипозом выбор до-норских мышц значительно ограничен в связи с их гипоплазией или аплазией. В большинстве случаев у таких пациентов развита трехглавая мышца пле-ча, и особенно ее длинная головка.Сообщение об изолированном перемещении длинной головки трехглавой мышцы плеча в по-зицию двуглавой мышцы впервые встречается в работе K. Biesalski и L. Mayer (1916) [5]. Об эф-фективности применения вышеописанного метода для восстановления активного сгибания предпле-чья у взрослых пациентов с повреждением пле-чевого сплетения сообщали P. Haninec, V. Szeder (1999) и S. Naidu [et al.] (2007) [8,10]. Нам удалось найти лишь две работы, посвященные транспози-ции длинной головки трехглавой мышцы плеча в позицию двуглавой у пациентов с артрогрипо-зом [6,7]. Однако данные об отдаленных резуль-татах лечения таких пациентов отсутствуют, что обусловливает актуальность исследования.Цель исследования -проанализировать ре-зультаты изолированной транспозиции длинной головки трехглавой мышцы плеча в позицию дву-главой мышцы с целью восстановления активно-го сгибания предплечья у пациентов с артрогри-позом. Материалы и методы исследованияВ период с 2008 по 2014 г. в ФГБУ «НИДОИ им. Г. И. Турнера» было проведено клиническое, неврологическое, ультрасонографическое и физио-логическое обследование 29 пациентов (35 верх-них конечностей) с артрогрипозом в возрасте от 10 мес. до 15 лет. У всех пациентов было резко ограничено или отсутствовало активное сгибание предплечья, у 13 из них также отсутствовало или было ограничено пассивное сгибание в локтевом суставе.
Background. The LoeysDietz syndrome is a rare autosomal dominant connective tissue disorder characterized by the pathology of the cardiovascular system in combination with various anomalies of the musculoskeletal system. In modern literature, there is neither any information about the frequency of pathology nor any algorithm of examination and treatment for patients with this syndrome. Clinical case. The article presents a clinical observation of a 7-year-old patient with LoeysDietz syndrome with a genetically confirmed diagnosis. Discussion. This article provided a literature review, examined diagnosis issues and differential diagnosis, and presented the clinical picture of the syndrome. The main symptoms of LoeysDietz syndrome are artery aneurysms (most often in the aortic root), arterial tortuosity (mainly the vessels of the neck), hypertelorism, and bifid (split) or broad uvula. However, the combination of these symptoms is not found in all patients with this disease. Conclusions. The article emphasized the importance of a genetic verification of the disease, as well as a multidisciplinary approach to treatment with mandatory dynamic monitoring by specialists such as a cardiologist, neurologist, orthopedist, and pediatrician, which help prevent the development of complications and increase the life expectancy of this group of patients.
Hip dislocation is common in patients with arthrogryposis and is observed in 13.5-58 % of cases. Currently, there is no conventional treatment strategy of this pathology. The review analyzes the data of the national and international literature on the etiopathogenesis, clinical picture and classifications, surgical and conservative treatment of this pathology.
Буллезный эпидермолиз (БЭ)-это редкое наследственное заболевание, его главный признак -образование пузырей и мокнущих ран (эрозий) на коже и слизистых оболочках, возникающих при незначительном травмировании. Клинические проявления заболевания могут варьировать от локализованных пузырей на руках и стопах до генерализованных высыпаний по всему кожному покрову, а также с поражением слизистой оболочки внутренних органов. В настоящее время выделено четыре основные группы БЭ: простой, промежуточный, дистрофический и синдром Киндлера. Мутации вызывают изменения в структуре белков, ответственных за адгезию между слоями дермы, что и приводит к образованию везикул. Лечение БЭ представляет собой сложную задачу вследствие отсутствия возможности прямого воздействия на патогенез заболевания, и его основной целью является купирование существующих кожных проявлений и предотвращение появления новых элементов. В статье приводится описание основных типов БЭ, видов современной диагностики и лечения заболевания, а также представлен клинический случай редкого сочетания двух тяжелых патологий -дистрофического буллезного эпидермолиза и артрогрипоза с поражением верхних и нижних конечностей.Ключевые слова: буллезный эпидермолиз, артрогрипоз, сгибательные контрактуры конечностей.
2 ГБОУ ВПО «Санкт-Петербургский государственный педиатрический медицинский универ-ситет», Санкт-Петербург В статье приводится описание клинического случая синдрома Брука у пациента грудного возраста. Клини-ко-рентгенологическая картина демонстрирует наличие системного остеопороза с патологическими пере-ломами, контрактуры локтевых, коленных, голеностопных суставов, задержку физического и двигательно-го развития, признаки гипоплазии некоторых групп мышц. Также имеется правосторонняя врожденная мышечная кривошея. При рентгенографии выявлены умеренная антекурвационная деформация голеней и бедер, истончение кортикального слоя. Лабораторные данные показали отклонения от нормы только со стороны бета-кросслапс в сторону увеличения. Проводится лечение по поводу остеопороза ингибиторами остеокластической резорбции (памидронатом) с положительным эффектом и сгибательных контрактур локтевых суставов гипсовыми повязками с дис-тракционным устройством также с положительным эффектом.Ключевые слова: синдром Брука, контрактуры суставов, остеопороз, дети.
ВведениеВрожденный множественный артрогрипоз (ВМА) -это заболевание, характеризующееся непрогрессирующими контрактурами 2 и более суставов с признаками поражения мотонейро-нов передних рогов спинного мозга. Деформации верхних конечностей при ВМА, по данным раз-личных авторов, отмечаются в 95 % случаев [1][2][3]. Самообслуживание таких больных ограничено, и для выполнения элементарных повседневных действий им необходимо использовать обе руки или дополнительные приспособительные меха-низмы.Деформация кистевого сустава находится на втором месте по частоте поражения опорно-дви-гательного аппарата у детей с ВМА [4][5][6]. Наи-более типичным вариантом поражения являются сгибательные контрактуры в сочетании с ульнар-ной девиацией кисти [2,6]. В доступной литера-туре описаны единичные классификации дефор-маций кистевых суставов при данной патологии, не отражающие их многообразие [7].Большинство авторов единодушны во мнении, что консервативное лечение должно быть начато как можно раньше после рождения и включать в себя ежедневные упражнения на растяжение, ФТЛ в комбинации с этапными гипсовыми по-вязками и ортезированием [2,7,8]. Предложено множество операций, направленных на устране-ние деформаций кистевых суставов: сухожиль-но-мышечные пластики, аллодезы, артродезы, карпэктомии, укорачивающая остеотомия костей предплечья, а также коррекция деформации аппа-ратом внешней фиксации [4,7,[9][10][11][12][13][14]. Однако ле-чение указанной патологии крайне проблематично у данного контингента больных в связи с высокой частотой возникновения рецидивов [4,7,15,16].
Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease. Congenital contractures are a heterogeneous group of various diseases with different etiology and pathogenesis. The article describes a family case of hereditary sensory-motor polyneuropathy caused by a mutation with 943GA (p Arg315Trp) in the TRPV4 gene (transient receptor potential vanilloid cation channel 4, NM_021625. 4). The article presents the clinical and neurological characteristics of the patient, the results of genetic and neurophysiological examination of the patient and his parents, differential diagnosis of this disease.
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