[Pain and Achilles tendon shortening in patients with idiopathic toe walking]. / Dolor y acortamiento aquíleo en pacientes con marcha de puntillas idiopática.

INTRODUCTION: Idiopathic toe walking (ITW) is a heterogeneous disorder, which is associated with muscle shortening in lower limbs, pain and neurodevelopmental disorders. We try to study the frequency of clinical features in patients with ITW. PATIENTS AND METHODS: Out of 100 patients evaluated with toe walking in a pediatric rehabilitation clinic, 77 (24,7% women) patients were diagnosed with ITW by means of TWT questionnaire. Achilles' tendon shortening with Silfverskiold manoeuvre, pain and attention deficit hyperactivity disorder (ADHD) were studied. In the group of patients with pain (n = 30), we studied pain evolution by means of a telephonic interview which assessed intensity, location, school absenteeism and used therapies. RESULTS: Out of 77 patients, 44.2% had family history of toe walking. 37.7% and 9.1% showed Achilles' tendon shortening and Knee flexor shortening, respectively. Confirmed diagnosed of ADHD was present in 9.1% and was suspected in 20.8%. The older the patient was, the higher frequency of pain and the lower passive ankle dorsiflexion. Pain has a moderate-severe intensity, was related with school absenteeism in 42.3% of the patients with pain. Pain was located mainly on the calf, the ankle and the foot. It was treated with physiotherapy, oral pain relievers, orthosis and botulinum toxin type A (BTxA). CONCLUSIONS: Pain in ITW is frequent, have a moderate-severe intensity, interferes in normal life and is referred in older children with lower ankle dorsiflexion. We found a common association between ITW and ADHD which points out ITW as alarm sign of learning problems.

TITLE: Dolor y acortamiento aquíleo en pacientes con marcha de puntillas idiopática.Introducción. La marcha de puntillas idiopática (MPI) es una entidad heterogénea que asocia acortamientos musculares en las extremidades inferiores, dolor y trastornos del neurodesarrollo. Pretendemos estudiar la frecuencia de ciertas características clínicas en pacientes diagnosticados de MPI. Pacientes y métodos. De un total de 100 pacientes evaluados por marcha de puntillas en una consulta de rehabilitación infantil, se diagnosticó a 77 pacientes (24,7% mujeres) como con MPI con ayuda del cuestionario Toe Walking Tool. Mediante la maniobra de Silfverskiöld pudo determinarse el acortamiento aquíleo y mediante test adaptados también el dolor y la asociación con el trastorno por déficit de atención/hiperactividad (TDAH). En el grupo con dolor (n = 30), estudiamos su evolución mediante encuesta telefónica evaluando la intensidad, la localización, el absentismo escolar asociado y el tratamiento utilizado. Resultados. De los 77 pacientes, el 44,2% presentó antecedentes familiares de marcha de puntillas, el 37,7% tuvo acortamiento aquíleo y el 9,1%, de los flexores de la rodilla. El 9,1% de ellos tuvo TDAH confirmado y el 20,8%, sólo sospecha. A mayor edad, encontramos mayor frecuencia de dolor y menor ángulo de dorsiflexión pasiva del tobillo. El dolor fue de moderada-alta intensidad, produjo un 42,3% de absentismo escolar y se localizó predominantemente en la pantorrilla, el tobillo y el pie, y se prescribió fisioterapia, analgesia oral, ortesis y/o toxina botulínica principalmente. Conclusiones. El dolor en la MPI es frecuente, de intensidad moderada-alta, interfiere en la vida diaria y es más referido en niños más mayores que asocian menor dorsiflexión del tobillo. Encontramos asociación de la MPI y el TDAH con frecuencia, lo que anima a profundizar más su estudio como signo de alerta.

Classification by degree of twisted structure of the fetal Achilles tendon.

BACKGROUND: The purpose of this study was to classify the twisted structure of the fetal Achilles tendon. METHODS: The study was conducted using 30 legs from 15 Japanese fetuses (mean weight, 1764.6 ± 616.9 g; mean crown-rump length, 283.5 ± 38.7 mm; 16 males, 14 females). According to attachment to the deep layer of the calcaneal tuberosity, cases showing only soleus attachment were classified as least twist (Type I), cases showing both lateral head of the gastrocnemius and soleus were classified as moderate twist (Type II), and cases with only lateral head of the gastrocnemius were classified as extreme twist (Type III). RESULTS: Viewing the Achilles tendon from cranially shows a structure twisted counterclockwise on the right side and clockwise on the left. The Achilles tendon was Type I in 4 legs (13%), Type II in 23 legs (77%), and Type III in 3 legs (10%). CONCLUSIONS: The twisted structure of the Achilles tendon can be classified as early as the second trimester and is similar to that seen in adults.

Classification of Achilles tendon shortening induced by scar contracture and corresponding treatment strategies for pediatric patients - A single unit experience.

BACKGROUND: Achilles tendon shortening of pediatric patients caused by scar contracture poses a challenge for us. It always impairs walking function. In this article, we attempted to introduce a new classification of Achilles tendon shortening of pediatric patients and corresponding treatment strategies in our single center. METHODS: From 2001 to 2018, 65 patients (aging from 13 to 17-years-old, 34 females and 31 males, 21 cases with unilateral Achilles tendon shortening and 44 cases with bilateral Achilles tendon shortening) were recruited. The causes included trauma (n = 13), scald (n = 20) and burn (n = 32). The distance between the heel and the ground was from 3 to 18 cm. They were classified into three types: ≤5 cm, mild, n = 9; 5-10 cm, moderate, n = 30; ≥10 cm, serious, n = 26. They had a history from 7 months to 4 years (28 cases with less than 1.5 years and 37 cases with more than 1.5 years). Treatment methods: Scar-Achilles-Tendon (SAT) flaps and skin graft were used for moderate cases before special external fixation shoes were used for fixation for at least 6 months. External special shoes fixation was used for mild cases except 5cases still received SAT flap and skin graft. In serious cases, bone extraction was used for at least 6 months before receiving SAT flap and skin graft. RESULTS: The distance between the heel and the ground was 0 cm after treatment in 54 cases (mild, n = 9; moderate, n = 28; serious, n = 18). Recurrence was found in 11 cases (mild, n = 0; moderate, n = 5; serious, n = 6) after six months follow-up. There were 13 cases of tangential excision of eschar and 8 cases of escharectomy (P < 0.05) with flap necrosis affection. Among them, 9 cases with a medical history of less than 1.5 years had partial necrosis, 6 cases with a medical history of more than 1.5 years had partial flap necrosis(P < 0.05). Local necrosis was covered by skin graft again. Bone exposure was found in 5 serious cases. It was repaired by negative pressure therapy first and then skin graft was used. The walking ability (P < 0.05) and function (P < 0.05) of lower limbs were statistically improved after treatment. CONCLUSIONS: Different methods can be used according to the shortening degree of Achilles tendon of pediatric patients based on the new classification, which may be useful for future clinical work.

Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome.

BACKGROUND: Although carpal tunnel syndrome (CTS) is the most common form of peripheral entrapment neuropathy, its pathogenesis remains largely unknown. An estimated heritability index of 0.46 and an increased familial occurrence indicate that genetic factors must play a role in the pathogenesis. METHODS AND RESULTS: We report on a family in which CTS occurred in subsequent generations at an unusually young age. Additional clinical features included brachydactyly and short Achilles tendons resulting in toe walking in childhood. Using exome sequencing, we identified a heterozygous variant (c.5009T>G; p.Phe1670Cys) in the fibrillin-2 (FBN2) gene that co-segregated with the phenotype in the family. Functional assays showed that the missense variant impaired integrin-mediated cell adhesion and migration. Moreover, we observed an increased transforming growth factor-ß signalling and fibrosis in the carpal tissues of affected individuals. A variant burden test in a large cohort of patients with CTS revealed a significantly increased frequency of rare (6.7% vs 2.5%-3.4%, p<0.001) and high-impact (6.9% vs 2.7%, p<0.001) FBN2 variants in patient alleles compared with controls. CONCLUSION: The identification of a novel FBN2 variant (p.Phe1670Cys) in a unique family with early onset CTS, together with the observed increased frequency of rare and high-impact FBN2 variants in patients with sporadic CTS, strongly suggest a role of FBN2 in the pathogenesis of CTS.

The Achilles tendon: Management of acute and chronic conditions.

BACKGROUND: The prevalence of acute and chronic conditions of the Achilles tendon is increasing among an ageing, active population. These conditions are a common cause of presentation to general practitioners and allied health practitioners. Achilles tendon injuries have a bimodal demographical presentation, with acute injuries commonly occurring in younger people and chronic conditions presenting in patients who are elderly. OBJECTIVE: The aims of this article are to discuss management of acute Achilles tendon ruptures in the primary care setting, explain the risks associated with calcaneal tuberosity fracture and discuss non-operative and surgical management of acute and chronic overload conditions of the Achilles tendon. DISCUSSION: Achilles tendon injuries can be divided into acute ruptures and chronic overuse injuries. Both can be debilitating, with significant morbidity for patients; fortunately, both types of injuries respond well to non-operative interventions, with only a small proportion requiring surgery. Management of acute Achilles tendon rupture has evolved, with increasing evidence that non-operative management is appropriate providing patients participate in a functional rehabilitation protocol. Chronic conditions such as the sequalae of an untreated rupture or Achilles tendinopathy can be debilitating but often respond well to non-operative management.

Papular epidermal nevus with "skyline" basal cell layer (PENS) with extracutaneous findings.

Papular epidermal nevus with "skyline" basal cell layer (PENS), a variant of epidermal nevus, was recently described in otherwise normal children. We describe herein a patient with multiple, typical PENS lesions associated with peculiar facies, bilateral Achilles tendon shortening, and mild psychomotor delay. The association of PENS with extracutaneous manifestations suggests the possibility of a new type of epidermal nevus syndrome, for which we propose the term PENS syndrome.

A cardio-facio-cutaneous syndrome case with tight Achilles tendons.

Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.

Minimally invasive approach for the treatment of non-isolated congenital vertical talus.

BACKGROUND: Traditional extensive soft-tissue release for the treatment of congenital vertical talus is associated with a myriad of complications. A minimally invasive approach has recently been introduced with good short-term results in patients with isolated vertical talus. The purpose of the present study was to evaluate the effectiveness of this approach for the treatment of rigid vertical talus associated with neuromuscular and/or genetic syndromes. METHODS: Fifteen consecutive patients (twenty-five feet) with non-isolated congenital vertical talus were retrospectively reviewed at a minimum of two years following treatment with serial casting followed by limited surgery. The surgery consisted of percutaneous Achilles tenotomy in all feet and either pin fixation of the talonavicular joint through a small medial incision to ensure joint reduction and accurate pin placement (five feet) or selective capsulotomies of the talonavicular joint and the anterior aspect of the subtalar joint (twenty feet). Patients were evaluated clinically and radiographically at the time of presentation, immediately postoperatively, and at the time of the latest follow-up. Radiographic data at the time of the latest follow-up were compared with age-matched normative values. RESULTS: Initial correction was obtained in all cases. The mean number of casts required was five. Mean ankle dorsiflexion was 22° and mean plantar flexion was 25° at the time of the latest follow-up. Recurrence was noted in three patients (five feet), all of whom had had initial subluxation of the calcaneocuboid joint. All radiographic parameters measured at the time of the latest follow-up had improved significantly (p < 0.0001) compared with the values before treatment, and the mean values of the measured angles did not differ significantly from age-matched normal values. CONCLUSIONS: Serial manipulation and casting followed by limited surgery, consisting of percutaneous tenotomy of the Achilles tendon and a small medial incision to either palpate the talonavicular joint or perform capsulotomies of the talonavicular joint and the anterior aspect of the subtalar joint to ensure accurate reduction and pin fixation, result in excellent short-term correction of the deformity while preserving subtalar and ankle motion in patients with rigid congenital vertical talus associated with neuromuscular and/or genetic syndromes.

Haglund syndrome with pump bump.

Haglund's syndrome, which is an inflammation of the bursa and a bony enlargement on the back of the heel that most often leads to painful bursitis, is a rare cause of retrocalcaneal pain. The clinical diagnosis is often confusing as the clinical picture may mimic other causes of hindfoot pain such as isolated retrocalcaneal bursitis or hindfoot involvement from more systemic disorders such as seronegative spondyloarthropathies (Reiter's syndrome, ankylosing spondylitis) or rheumatoid arthritis. This report is of a 60-year-old woman with a painful swelling of the right heel, who was diagnosed with Haglund syndrome. The characteristic clinical photograph (showing the prominent 'pump bump'), radiographical and magnetic resonance imaging features are presented.

Prognostic value of Achilles tendon Doppler sonography in asymptomatic runners.

INTRODUCTION: Midportion Achilles tendinopathy (MPT) is a common problem in running athletes. Nevertheless, its etiology is not fully understood, and no valid prognostic criterion to predict the development of MPT could be identified to date. The purpose of the present study, therefore, was to evaluate whether power Doppler ultrasonography (PDU) is a suitable method to identify a predisposition to MPT in yet asymptomatic runners. METHODS: At 23 major running events, 634 asymptomatic long-distance runners were tested for Achilles tendon thickness, vascularization, and structural abnormalities using a high-resolution PDU device (Toshiba Aplio SSA-770A/80, 12 MHz). In addition, their medical history and anthropometric data were documented. All subjects were contacted 6 and 12 months later and asked about any new symptoms. The collected anamnestic, anthropometric, and ultrasonographic data were subjected to regression analysis to determine their predictive value concerning the manifestation of midportion Achilles tendon complaints (P < 0.05). RESULTS: The highest odds ratio (OR) for manifestation of MPT within 1 yr was found for intratendinous blood flow ("neovascularization," OR = 6.9, P < 0.001). An increased risk was also identified for subjects with a positive history of Achilles tendon complaints (OR = 3.8, P < 0.001). A third relevant parameter, just above the level of significance, was a spindle-shaped thickening of the tendon on PDU (Wald χ2 = 3.42). CONCLUSIONS: PDU detection of intratendinous microvessels in the Achilles tendons of healthy runners seems to be a prognostically relevant factor concerning the manifestation of symptomatic MPT. This finding lays the foundation for an early identification of a predisposition to MPT as well as prophylactic intervention in as yet asymptomatic runners.

Enfermedad de Charcot-Marie-Tooth: revisión con énfasis en la fisiopatología del pie cavo / Charcot-Marie-Tooth disease: a review with emphasis on the pathophysiology of pes cavus

La enfermedad de Charcot-Marie-Tooth es la neuropatía hereditaria más frecuente con una prevalencia en España de 28,2 casos/100.000 habitantes. Se trata de un síndrome polineuropático sensitivo-motor, desmielinizante o axonal, que puede transmitirse con herencia autosómica dominante, autosómica recesiva, o ligada al cromosoma X. Pese a su semiología estereotipada, es un síndrome genéticamente complejo, dado que se han localizado 36 loci con una treintena de genes mutantes clonados. Analizamos los mecanismos patogénicos de estas mutaciones génicas. Abordamos la fisiopatología del pie cavo, que es manifestación cardinal de la enfermedad. En estadios clínicos iniciales, el pie cavo probablemente sea desencadenado por una desnervación selectiva de la musculatura intrínseca del pie, que causa un desequilibrio entre sus músculos intrínsecos y extrínsecos con dedos en garra, retracción de la fascia plantar, elevación del arco plantar, y acortamiento del tendón de Aquiles. Revisamos el diagnóstico y tratamiento de la enfermedad (AU)

Charcot-Marie-Tooth disease is the most frequent inherited neuropathy with a prevalence ratio in Spain of 28.2 cases/100,000 inhabitants. It is a sensory-motor polyneuropathic syndrome, either demyelinating or axonal, which might be transmitted with autosomal dominant, autosomal recessive or X-linked pattern. Despite presenting with a stereotyped semiology, this a genetically complex syndrome comprising 36 localized loci with 30 cloned mutated genes. Here we briefly review the pathogenic mechanisms of these gene mutations. We address the pathophysiology of pes cavus, which is a cardinal manifestation of the disease. In the early clinical stages, forefoot pes cavus is most probably due to selective denervation of foot musculature, and particularly of the lumbricals, which causes an imbalance between intrinsic and extrinsic foot muscles leading to toe clawing, retraction of plantar fascia, approximation of the pillars of the longitudinal arch, and shortening of the Achilles tendon. We review the disease diagnosis and treatment (AU)

Avaliação transversal dos métodos terapêuticos do pé torto congênito equinovaro idiopático: controvérsias sobre a tenotomia do tendão calcâneo / Cross-evaluation of the therapeutical methods for idiopathic congenital clubfoot (talipes equinovarus): controversies regarding the tendocalcaneous tenotomy

OBJETIVO: Há muita discussão em relação ao tratamento do pé torto congênito equino-cavo-varo e atualmente a sistemática proposta por Ponseti parece ser a mais racional oferecendo altas taxas de resultados satisfatórios em detrimento à metodologia de Kite que predominou no meio ortopédico até o final da década de 90. Com a recente mudança de conceitos, este trabalho tem o intuito de analisar, por meio de questionário aplicado no 39º Congresso Brasileiro de Ortopedia e Traumatologia, o perfil dos ortopedistas no Brasil frente a esta afecção, fato este desconhecido considerando a literatura nacional. MÉTODO: Um questionário para investigação foi elaborado para verificar o método de tratamento utilizado, as características da população estudada, os resultados obtidos com o tratamento e particularmente como abordam cirurgicamente o tendão calcâneo. RESULTADOS: Do total de 5.329 ortopedistas inscritos, obtivemos 539 participações espontâneas; destes, somente 88 (16,30 por cento) indivíduos executam o tratamento para o pé torto congênito; 78 (88,60 por cento) aplicam o método de Ponseti; e nove (10,20 por cento) o de Kite. Para 47,70 por cento, o tratamento conservador é realizado entre quatro e seis meses e para 35,20 por cento entre um e três meses; 58 (66,00 por cento) entrevistados efetuam a tenotomia do tendão calcâneo em 80 por cento a 100 por cento de seus pacientes e 59 (67,05 por cento) a realizam no centro cirúrgico devido às condições de segurança, assepsia, anestesia, facilidade de acesso e monitorização do paciente; 32 (36,36 por cento) ortopedistas apresentam 80 por cento ou mais de bons resultados, 54 (61,36 por cento) apresentam 50 por cento a 80 por cento de bons resultados e 46 (52,27 por cento) apresentam taxa de recidiva de 10 por cento. CONCLUSÃO: Embora o método de Ponseti defina que a tenotomia do tendão calcâneo seja realizada ambulatorialmente com anestesia local, a maioria 59 (67,05 por cento) dos ortopedistas a realiza no centro cirúrgico.

OBJECTIVE: There has been a lot of discussion regarding the treatment of congenital clubfoot (talipes equinovarus,) and Posenti's methodology currently seems to be the most rational, offering high rates of satisfactory results when compared to Kite's approach that prevailed in orthopedics until the end of the 90s. With the recent change of concepts, this study purports to analyze the profile of orthopedists treating this infirmity in Brazil, through a questionnaire used at the 39th Brazilian Congress of Orthopaedics and Traumatology, since such data is unknown in the Brazilian literature. METHODS: An investigative questionnaire was prepared to ascertain the treatment method used, the characteristics of the population studied, the results acquired with treatment and, particularly, how they approached the Achilles tendon. RESULTS: Of the 5,329 registered orthopedists, we acquired 539 spontaneous participations. Of these, only 88 (16.30 percent) orthopedists perform the treatment for congenital clubfoot; 78 (88.60 percent) use the Ponseti method and 9 (10.20 percent) use Kite's; for 47.70 percent, conservative treatment is performed between 4 and 6 months and for 35.30 percent, between 1 and 3 months; 58 (66.00 percent) interviewees perform the Achilles tendon tenotomy in 80 percent to 100 percent of their patients and 59 (67.05 percent) perform it at a surgical center due to safety conditions, sterilized environment, anesthesia, ease of access, and patient monitoring; 32 (36.36 percent) orthopedists present 80 percent of good results or more, 54 (61.36 percent) present 50 percent to 80 percent good results and 46 (52.27 percent) present a 10 percent relapse rate. CONCLUSIONS: Although the Ponseti Method defines that the Achilles tendon tenotomy should be performed in an outpatient setting, most of the orthopedists (59 - 67.05 percent) perform it in the operating room.

Coexistence of anomalous m. peroneus tertius and longitudinal tear in the m. peroneus brevis tendon.

The longitudinal tear in the m. peroneus brevis tendon is frequently observed as a less common cause of chronic ankle pain and disability. In this case the rare association of a longitudinal tear in the m. peroneus brevis tendon and an anomalous m. peroneus tertius origin of muscle bulk and insertion were detected during a routine dissection of the lower left extremity. The m. peroneus tertius was originating separately from the fibula rather than as a slip from extensor digitorum longus. The muscle bulk was also bulkier than normal. The fanned-out m. peroneus tertius tendon adhered almost on the entire dorsal surface of the fifth metatarsal bone. According to our case report one of the possible causes of the longitudinal tear in the m. peroneus brevis tendon can be an anomalous m. peroneus tertius with its different origin and insertion points and muscle bulk, via changing the ankle motion mechanism. This anomaly should be considered in the patients presenting with ankle pain in the clinic.

High association between accessory soleus muscle and Achilles tendonopathy.

OBJECTIVE: This study investigated the association between accessory soleus muscle and abnormalities of the Achilles tendon. MATERIALS AND METHODS: The authors reviewed 15 consecutive cases with a diagnosis of accessory soleus muscle from a computerized database of ankle magnetic resonance (MR) examinations reported between January 1998 and January 2007. On review, two cases were eliminated because of an incorrect initial diagnosis: One patient had a low lying soleus attachment to the Achilles tendon, while the other had a prominent flexor hallucis longus tendon partially obliterating Kager's fat. The remaining 13 cases with accessory soleus muscles were evaluated for Achilles tendon abnormalities. RESULTS: There were 13 cases of accessory soleus muscles in 11 patients; two patients had bilateral accessory soleus muscles (the only study patients with bilateral MR examinations in our sample). There were five male and six female patients ranging from 15 to 81 years of age (mean 48). There were nine cases (69.2%) in which Achilles tendonopathy was associated with accessory soleus muscle, including tendonopathy of each Achilles tendon in the two patients with bilateral accessory muscles. CONCLUSION: In our small patient population, there was a high association between accessory soleus muscle and Achilles tendonopathy.

Symptomatic accessory soleus muscle: report of 18 cases in athletes.

AIM: The aim of this paper was to investigate the prevalence and sports distribution in athletes. METHODS: Six hundred and fifty radiographs of athletes affected by tenderness and exertional pain in the region of the Achilles tendon, were observed over a period of 30 years. The clinical and diagnostic imaging materials were reviewed. RESULTS: Eighteen cases of accessory symptomatic soleus muscle were diagnosed: in 10 cases using soft tissue radiographic technique, in 8 cases using, in sequence, exclusively ultrasound and magnetic resonance. CONCLUSIONS: The presence of an accessory soleus muscle has been considered a rare even incidental occurrence; the review of our cases, substantially different for the evident symptoms, showed a frequency in athletes of 2.77% in accordance with the results of the anatomical and clinical literature. US and MRI are the best diagnostic modalities especially in differentiating accessory soleus muscle from soft tissue tumors not rare in this anatomic region.

MDCT of tendon abnormalities using volume-rendered images.

OBJECTIVE: Our objectives were to report tendon abnormalities diagnosed on 3D volume-rendered images from MDCT data and to validate the clinical usefulness of this technique. CONCLUSION: We present 18 tendon abnormalities from 16 patients that were diagnosed on 3D volume-rendered MDCT images generated by commercially available software. Certain abnormalities such as avulsions, partial tears, and dislocations of tendons are clearly shown by this technique. This technique may prove useful in the evaluation of tendon abnormalities when MRI or sonography cannot be used.