Резюме. В статье представлены результаты реабилитации детей с последствиями спинномозговых грыж с применением роботизированного комплекса "Pediatric Lokomat" производства компании «Hocoma» (Швейцария). У таких пациентов одной из самых существенных ортопедических проблем по частоте и клинической значимости является нестабильность тазобедренного сустава. Тактика восстановительного лечения детей после реконструктивных операций на тазобедренном суставе подразумевает принцип «раннее движение -поздняя нагрузка». Традиционные методы восстановительного лечения проводятся в положении лежа, и не позволяют сочетать этот принцип с отработкой навыков вертикальной позы, что приводит к развитию остеопороза и к риску патологических переломов. Роботизированная механотерапия позволяет справляться с этой задачей за счет работы в изокинетическом режиме без нагрузки на опорную поверхность.Ключевые слова: спинномозговая грыжа, роботизированный комплекс, дети, ортопедия.
Introduction. Ponseti method is a widespread treatment for clubfoot in children with arthrogryposis. Closed subcutaneous achillotomy in these patients could not completely rectify the equinus deformity due to tissue rigidity which often leads to reconsideration of the tenotomy principles. Aim. This study aimed to formulate the anticipating criteria to assess the effectiveness of achillotomy in order to develop a different achillotomy approach for children with arthrogryposis. Materials and methods. This study retrospectively analyzed closed subcutaneous achillotomy in 28 patients (56 feet) with arthrogryposis. The mean age of the patients was 5.4 months (range 2–8 months). The children were subdivided into two groups according to the residual equinus deformity after the completion of Ponseti serial casting. All patients were physically and radiographically examined. Results and discussion. The first group included 12 patients (24 feet), which achieved foot neutral position or dorsiflexion ≥5° after achillotomy. The second group consisted of 16 patients (32 feet) with residual equinus after achillotomy who required surgery. X-ray images showed that the patients in the second group had significantly wider tibiocalcaneal angle and smaller talocalcaneal angle in lateral view (р < 0.01). The correction values of the equinus deformity after achillotomy in the children with arthrogryposis were greatly limited: 27° (20°–30°) and 19° (10°–30°) in the first and second groups, respectively. Conclusion. Closed subcutaneous achillotomy for effective equinus elimination during clubfoot treatment by Ponseti method should be performed only after complete correction at the level of tarsal joints. X-ray examination of the feet is recommended for the children with arthrogryposis in order to evaluate the talocalcaneal divergence and heel position more comprehensively. Furthermore, the values of tibiocalcaneal and talocalcaneal angles in lateral view prior to achillotomy are essential prognostic factors of its effectiveness. Moreover, the severity of equinus contracture should be considered prior to achillotomy. Achilles tenotomy is inappropriate if equinus deformity exceeds 30°. In such cases, open surgery should be considered.
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.
Introduction. The term “mesomelic dysplasia” refers to a group of disorders wherein limb shortening is most pronounced in the middle segment (forearm and leg) of the extremities. Werner mesomelic dysplasia is characterized by absence or hypoplasia of the tibia, preaxial polysyndactyly on the hands and feet, as well as by triphalangeal thumbs, absence of a patella, and fibular bone dislocation. Molecular genetic causes of the disease are mutations at position 404 of the regulatory element (ZRS) of the SHH gene in the LMBR1 gene (OMIM 188740). Clinical case. A girl with triphalangeal thumbs and polydactyly of the hands, right hip dislocation, tibia hypoplasia, fibular dislocation on both sides, and preaxial polydactyly of the feet was examined and treated at the age of 1 year. Considering the clinical and radiological picture, the girl was diagnosed with Werner mesomelic dysplasia. To verify the disease, a molecular genetic examination of the child was performed. A variant of replacement of 230 T > C in the regulatory element of the ZRS of the SHH gene was discovered in the literature. Discussion. Differential diagnosis can be made with Laurin-Sandrow syndrome, which is characterized by doubling of the ulna and fibula with the absence of the radius and tibia and preaxial polydactyly/syndactyly of the hands and feet. The presence of nasal defects (particularly involving the columella) distinguishes this condition from other syndromes, which was not shown in this clinical observation. Conclusion. We report the clinical case of an autosomal-dominant disease, Werner mesomelic dysplasia, which is a rare pathology with a typical clinical picture combined with congenital hip dislocation, which was not previously described. The molecular genetic examination confirms the presence of a pathogenic variant of the ZRS element of the SHH gene, which causes the development of Werner’s mesomelic dysplasia, but the mutation variant was not registered before, which requires an additional examination of the child’s relatives.
Background. Severe hypoplasia (or aplasia) of the biceps brachii is a primary cause of restriction in activities of daily living in patients with arthrogryposis. Aim. To estimate the possibility of restoring elbow active flexion via a latissimus dorsii transfer in patients with arthrogryposis. Materials and methods. From 2011 to 2018, we restored active flexion of the elbow via a latissimus dorsi transfer to the biceps brachii in 30 patients with arthrogryposis (44 upper limbs). We used different regimes including clinical examinations, EMG donor and recipient sites, and CT of the chest wall and shoulder. Results. The mean age of the patients was 4.0 ± 2.4 years, and the follow-up period was 3.2 ± 1.9 months. Follow-up results were available for 26 patients (30 upper limbs). The active postoperative elbow motion was 90.5 ± 14.9°. Elbow extension limitation occurred in 51% of cases (12.8 ± 4.3°) without any problems in activities of daily living. In total, 55.6% of patients had good results, 33.3% had satisfactory results, and 11.1% had poor results. Discussion. Our latissimus dorsi transfer results were comparable with those of other authors. Transposition of the latissimus dorsi to the biceps brachii restores sufficient flexion of the elbow without severe elbow flexion contractures. Conclusions. We suggest pedicle monopolar latissimus dorsi transfer as a reliable therapeutic option to restore active elbow flexion in patients with arthrogryposis having passive elbow flexion of 90° or higher before operation and donor muscle strain grade 4 or higher.
Background. In children with arthrogryposis, a lack of elbow flexion with extensor elbow contractures limits the childs self-care. Aim. The aims of this study were to follow and analyze treatment results after posterior arthrolysis of the elbow joint with lengthening (Z-plasty, according to the V-Y technique) or without lengthening the triceps of the shoulder in children with arthrogryposis in different age groups. Materials and methods. Data from 109 patients with arthrogryposis with extensor contractures in the elbow joints (158 joints) who underwent posterior arthrolysis of the elbow joint to increase passive flexion in the elbow joint from 2005 to 2018 were included in this study. Clinical, and X-ray examination of patients was carried out. Results. The children were divided into nine groups depending on their age at the time of the operation and the method of surgical correction (with or without lengthening of the triceps muscle). The follow-up period in the postoperative period in the main group of patients (67.1% of cases) was 4.5 years. Good treatment results were observed in 95.83% of children younger than 3 years who did not lengthen the triceps compared with 85.56% of children of the same age who extended the triceps tendon. The amplitude of passive movements after surgery was greatest in children younger than 1 year and was greater with lengthening (104.00 16.24) than without lengthening (91.38 10.27) of the triceps tendon (p 0.001). However, in cases where lengthening of the triceps tendon was not performed, extension was less limited. Over 3 years, m. triceps br. showed satisfactory results with Z-extension and V-Y extension, increasing to 19.44% and 36.51%, respectively. Results of treatment in children older 7 than years were comparable with those of children 37 years old. Conclusions. In children with arthrogryposis after posterior arthrolysis of the elbow joint, receiving a passive range of motion in the elbow joint allowed the child to use adaptive mechanisms for self-care. The results of treatment with extensor elbow contracture after posterior artrolysis depended not on the elongation technique (V-Y or Z-plasty) but on the angle at which the triceps tendon was sewed, the patients age at the time the operation was performed, and the postsurgery rehabilitation of the child.
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