В статье представлено описание генетических факторов, ассоциированных с ходьбой на носках у детей. Описана ассоциация патологической походки с вариантами генов PMP22 (peripheral myelin protein 22), EGR2 (early growth response protein 2), AIFM1 (apoptosis inducing factor mitochondria associated 1), MORC2 (member of the Microrchidia family CW-type zinc finger 2), DHTKD1 (dehydrogenase E1 and transketolase domain containing 1), GDAP1 (ganglioside induced differentiation associated protein 1), KIF1B (kinesin family member 1B), FGD4 (FYVE, RhoGEF and PH domain containing 4), SBF2 (SET binding factor 2), SH3TC2 (SH3 domain and tetratricopeptide repeats 2), NAGLU (N-acetyl-alpha-glucosaminidase), NEFL (neurofilament light) и PRX (periaxin). Генетическое тестирование пациентов с ходьбой на носках в дополнение к клиническому обследованию необходимо для более точной диагностики патологии.
Background. Pathogenic variants of the CREBBP gene have been revealed in patients with Rubinstein–Taybi and Menke–Hennekam syndromes, however, the toe walking symptom was not mentioned in these pathologies.Clinical Case Description. The pathogenic nucleotide variant c.5600G>A in heterozygous state in the CREBBP gene was revealed in our 9-year-old female patient with refractory toe walking and developmental speech delay. There were no abnormalities typical for Rubinstein–Taybi syndrome, but there were several signs of Menke–Hennekam syndrome.Conclusion. The genetic anomaly associated with toe walking is described. This observation allows us to critically relate to the hypothesis about the idiopathic genesis of this form of gait disorder at the absence of obvious neurological or orthopedic causes of its development.
Background. The main method of surgical treatment of toe walking is Achilles tendon extension, which is associated with the risk of excessive correction, tendon rupture, its poor blood supply, plantar flexion deformity. Another alternative is minimally invasive technique, myofasciotomy. Objective. The aim of the study is to study the results of percutaneous myofasciotomy in patients with idiopathic toe walking with severe foot deformity and with no effect of conservative therapy. Methods. The study included data (medical records) from patients with idiopathic toe walking who underwent Ulzibat percutaneous myofasciotomy. We have evaluated the frequency of persistence (recurrence) of toe walking on the next day and 12 months after surgery among all the treatment outcomes. Additionally, the range of motions in ankle joint, the presence of foot deformities, parental satisfaction with surgery results, as well as the number of postoperative complications were analyzed. Results. Percutaneous myofasciotomy was performed in 50 children (11 females) with median age of 13 (10; 16) years during the study period. There were no cases of toe walking on the next day after surgery. Recurrence of toe walking was revealed in 3 (6%) patients within 12 months after surgery. Dorsiflexion rates reached ≥ 10 degrees in all patients at evaluating foot mobility on the next day after surgery and 12 months later. The only revealed surgical treatment complication was postoperative hematoma in 10 (20%) patients. Parents of 3 (6%) children (all with recurrent toe walking) were dissatisfied with surgery results. Conclusion. Ulzibat percutaneous myofasciotomy has shown high efficacy and relative safety in the treatment of patients with idiopathic toe walking.
В данной статье приводится описание двух клинических случаев пациенток с ходьбой на носках. В рамках диагностики обеим пациенткам был проведен генетический тест на наследственную сенсомоторную нейропатию, который выявил у одной пациентки мутацию в гене NDRG1 с редким вариантом c.1022G> A; p.arg341His (частота минорного аллеля < 0,01%), у другой пациентки обнаружен гетерогенный вариант c.1053_1082del и NM_001135242.1 p.Thr360_Gly369del. Данные мутации ассоциированы с болезнью Шарко–Мари–Тута (тип 4D), но ни у одной из пациенток клинически не было обнаружено данной наследственной нейропатии, в то же время диагноз идиопатической ходьбы на носках также сомнителен, поскольку в обоих случаях потребовалось достаточно серьезное лечение. Поэтому разумно предположить, что обе пациентки ходят на цыпочках по генетической причине. This article describes two clinical cases of patients with tiptoe walking. As part of the diagnosis, both patients underwent a genetic test for hereditary sensorimotor neuropathy, which revealed in one patient a mutation in the NDRG1 gene with a rare variant c.1022G> A; p.arg341his (minor allele frequency < 0.01%), in the other patient a heterogeneous variant c.1053_1082del and NM_001135242.1 p.thr360_gly369del was detected. These mutations are associated with Charcot–Marie–Toute disease (type 4D), but none of the patients were clinically diagnosed with this hereditary neuropathy, while the diagnosis of idiopathic toe-walking is also doubtful, since in both cases quite serious treatment was required. Therefore, it is reasonable to assume that both patients walk on tiptoe for a genetic reason.
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