[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].

CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient's mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians' understanding of CAPOS syndrome, emphasizing the case's clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.

Roussy-Lévy Syndrome: Pes Cavus, Tendon Areflexia, Amyotrophy, Gait Ataxia, and Upper Limb Tremor in a Patient with CMT Neuropathy.

Background: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy. Phenomenology Shown: This video demonstrates irregular, jerky bilateral kinetic, postural, rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient with CMT disease. Educational Value: Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy. Highlights: This video abstract depicts a bilateral hand tremor characteristic of Roussy-Lévy syndrome seen in patients with Charcot-Marie-Tooth disease neuropathy. The significance of the abstract lies in the phenomenology and the physiology of the tremor seen in patients with genetically confirmed duplication of PMP22 gene.

Managing the Severe Cavus Foot Deformity in Global Humanitarian Programs.

The cavus foot represents a complex spectrum of deformity ranging from the subtle idiopathic to the severe sensorimotor neuropathy and other neuromuscular deformities. The successful surgical treatment of the cavus foot depends on a fundamental understanding of the underlying multiplanar deformity, inherent muscle balance, and the rigidity of the hindfoot. The location of the deformity is described and understood according to its multiple apices. These deformities are addressed with osteotomies or arthrodesis directed at the apices of deformity. Simultaneously, correction of muscular imbalances with appropriate tendon transfers must also be performed to prevent recurrent deformity. With these principles in mind, the surgical correction of the cavus foot becomes simplified and algorithmically driven.

The Role Of Minimally Invasive Osteotomies In Cavovarus Foot Reconstruction: Detailed Technique And Evidence For Procedures.

Percutaneous correction of cavus foot deformity can be achieved with satisfactory correction of foot anatomy and biomechanics. Surgical management of cavovarus foot reconstruction is an individualized combination of surgical procedures designed to correct deformity. Minimally invasive procedures using high-torque low-speed burr can facilitate large deformity correction without extensive soft tissue stripping. This article presents the operative technique for percutaneous cavus foot correction including a lateralizing calcaneal osteotomy and proximal first ray osteotomy. However, methodologically robust evidence to support this procedure is lacking at present, and further research, particularly, focusing on long-term clinical outcomes and follow-up is required.

Cavovarus Deformity: Why Weight-Bearing Computed Tomography Should Be a First-Line Imaging Modality.

Cavovarus foot is a complex three-dimensional deformity, which includes a wide range of clinical conditions from subtle deformities to disabling feet. In this article, the authors discuss the role of weight-bearing computed tomography, which might enable to avoid double imaging (radiographs + tomography) in patients for which a detailed osteoarticular assessment is required, with the advantage to obtain tomographic images in standing position and a reduction of radiation exposure.

Is Subtle Cavovarus a Problem for Athletes?

Cavovarus or high-arched foot is a common foot deformity that occurs due to the disruption of the foot-driven equilibrium between the first metatarsal, fifth metatarsal, and the heel. This imbalance leads to an increase in the foot's normal plantar concavity. Cavovarus deformity ranges from a mild and flexible malalignment to a fixed, complex, and severe deformation. Subtle cavovarus foot, the mild form of the cavus foot, was first described by Manoli and colleagues.

Toes Deformities in Cavovarus: How to Approach Them.

Sagittal lesser toe deformities (LTD) are the most common in cavus foot. They are mainly the result of muscular imbalance between intrinsic and extrinsic muscles. Surgery is the second-line treatment if medical treatment fails. The aim of the present study was to provide an update on classification and surgical management of LTD in cavus foot including percutaneous procedures with a special focus on sagittal deformities. Joint sparing procedures are preferred for reducible LTD, whereas lesser toe fusions are used for rigid one in association with tendon transfer or percutaneous procedures depending of surgeon's experience and patient's clinical examination.

Ankle Instability and Peroneal Disorders in Cavovarus Feet: Do I Need a Calcaneal Osteotomy?

In order to understand the relation among ankle instability, peroneal disorders, and cavovarus deformity, it is mandatory to clarify the different stages of those disorders and also to put them into relation to each other. Finally, we need to take the patients compliance and expectations into consideration to define the individually right way of treatment.

Posterior Heel Pain in Cavovarus Foot: How to Approach It.

When a patient presents with posterior heel pain on the background of a cavovarus foot, there are many different aspects to take into account. The morphology of the foot and the specific cause of the patient's pain lead the practitioner to alter the treatment appropriately. Some patients should only receive physiotherapy, but the majority should receive more invasive treatments, including calcaneal osteotomies or tendon debridement, depending on their particular presentation and pathology. This review examines the various different facets of posterior heel pain that must be dealt with and the most up-to-date treatments for the same.

Hindfoot Fusions in the Cavovarus Foot: What Is the Key for a Successful Outcome?

The aim of hindfoot fusions in the cavovarus foot is to establish a painless, plantigrade, balanced and stable foot. A comprehensive clinical and radiographic assessment enables the surgeon to fully understand the patient's deformity and plan a reliable surgical strategy for deformity correction. Pre-operative planning and intraoperative techniques are discussed.

Supramalleolar Osteotomies in Cavovarus Foot Deformity: Why Patient-Specific Instruments Make a Difference.

Supramalleolar osteotomy enables correction of the ankle varus deformity and is associated with improvement of pain and function in the short term and long term. Despite these beneficial results, the amount of surgical correction is challenging to titrate and the procedure remains technically demanding. Most supramalleolar osteotomies are currently planned preoperatively on 2-dimensional weight-bearing radiographs and executed peroperatively using free-hand techniques. This article encompasses 3-dimensional planning and printing techniques based on weight-bearing computed tomography images and patient-specific instruments to correct ankle varus deformities.

Managing Cavovarus Feet in Diabetic Patients.

A cavovarus foot is characterized by exacerbated medial longitudinal arch (cavus), hindfoot varus, plantar flexed first ray, forefoot pronation (apparent supination), forefoot adduction, and claw toe deformities. It can be broadly divided as flexible and rigid and further classified based on the neurological and non-neurological causes. Diabetes associated peripheral neuropathy complicates individual bony deformities associated with cavovarus foot with early callus which can breakdown to ulceration rapidly. Based on the disease progression in neurological and non-neurological causes of cavovarus feet in patients with diabetic neuropathy, 3 stages of the disease and its management is described.

Nonneurologic Cavovarus Feet in Skeletally Immature Patients: Main Causes and Principles of Treatment.

The foot resembles a tripod. The 3 legs consist of (1) the tip of the heel, (2) the first metatarsal, and (3) the fifth metatarsal. This concept is useful to explain cavus or flat feet. When the tips of the tripod move closer, the arch becomes higher. The leg of the tripod that moves the most will determine the type of cavus feet, which can be hindfoot cavus, forefoot cavus, or first metatarsal cavus. Cavovarus foot denotes the presence of a three-dimensional deformity of the foot, but it is much more a descriptive feature than a diagnosis.

Assessing the coronal plane deformity in Charcot Marie Tooth Cavovarus feet using automated 3D measurements.

BACKGROUND: This study assesses the coronal-plane deformities in cavovarus feet secondary to Charcot-Marie-Tooth disease (CMT) using Weightbearing-CT (WBCT) and semi-automated 3D-segmentation software. METHODS: WBCTs from 30 CMT-cavovarus feet were matched to 30 controls and analysed using semi-automatic 3D-segmentation (Bonelogic, DISIOR). The software used automated cross-section sampling with subsequent straight-line representation of weighted centre points to calculate 3D axes of bones in the hindfoot, midfoot and forefoot. Coronal relationships of these axes were analysed. Supination/pronation of the bones in relation to the ground and within each joint were measured and reported. RESULTS: The most significant deformity in CMT-cavovarus feet occurred at the talonavicular joint (TNJ) with 23 degrees more supination than normal feet (6.4 ± 14.5 versus 29.4 ± 7.0 degrees, p < 0.001). This was countered by relative pronation at the naviculo-cuneiform joints (NCJ) of 7.0 degrees (-36.0 ± 6.6 versus -43.0 ± 5.3 degrees, p < 0.001). Combined hindfoot varus and TNJ supination resulted in an additive supination effect not compensated by NCJ pronation. The cuneiforms in CMT-cavovarus feet were therefore supinated by 19.8 degrees to the ground relative to normal feet (36.0 ± 12.1 versus 16.2 ± 6.8 degrees, p < 0.001). The forefoot-arch and 1st metatarsal-ground angles demonstrated similar supination to the cuneiforms suggesting no further significant rotation occurred distally. CONCLUSION: Our results demonstrate coronal plane deformity occurs at multiple levels in CMT-cavovarus feet. Majority of the supination arises at the TNJ, and this is partially countered by pronation distally, mainly at the NCJ. An understanding of the location of coronal deformities may help when planning surgical correction. LEVEL OF EVIDENCE: Level III, retrospective comparative study.

Severe equinus cavo-varus correction through triplanar tarsectomy and posterior tibial tendon transfer based on 3D-printed biomodel.

Surgery for severe equine cavo-varus is complex and must be individualized. The interindividual phenotypic variability demands a personalized planning of each foot to be operated. The study's primary goal was to evaluate the function and satisfaction of a series of patients with severe equinus cavo-varus deformity who underwent a triplanar tarsectomy and transposition of the posterior tibial tendon in a single stage surgery after a patient specific 3D biomodel planning. A series of 12 feet (5 patients bilaterally) operated with this technique was analyzed. The cohort comprised 2 females (28.5 %) and 5 males (71.4 %). The median follow-up time was 38.5 months (interquartile range: 24.75-48.75). The Foot and Ankle Disability Index pre (median 32.85; interquartile range: 20-46) and postsurgery (median 72; interquartile range: 56-75.5) were collected and statistically significant differences were observed (p < 0.002). Furthermore, the main variable evaluated was obtaining a plantigrade stable foot. This was clinically evaluated and was achieved in all patients except 1 patient who presented a residual equinus of 5º. This study shows that triplanar tarsectomy and posterior tibial tendon transfer in a single surgical procedure after patient-specific 3D biomodel planning allows for improved function in patients with severe equinus cavus varus foot deformity.

Cavus Foot in Soccer Players: Increased Prevalence in Experienced Players and Risk Factor for Injury.

BACKGROUND: Foot type, especially cavus foot, is associated with foot and ankle soccer injuries, such as ankle sprains, ankle instability, and foot and ankle lateral injuries. The aim of this study was to identify risk factors for foot and ankle injuries among soccer players. METHODS: Male and female soccer players, from beginners to semiprofessionals, aged between 10 and 40 years were enrolled in this cross-sectional study. Players filled in questionnaires about their training and injury history. Clinical measurements included foot length, Foot Posture Index-6, and arch height flexibility. Each variable was dichotomized: age (<18 years versus ≥18 years), level of play (AA and below versus AAA and above), foot type (cavus or not), and injury. Injury occurrence was analyzed using χ2 tests between each group of variables, and significance was set at P < .05. RESULTS: A total of 277 players, including 81 females, volunteered; 147 were younger than 18 years and 180 were AA level or below. Cavus foot prevalence was 30%. In the cavus foot group, 51.8% of players had reached at least an AAA level compared with 27.8% in the normal-arched group (P < .001 [χ2]). Injuries were associated with a cavus foot type (P < .01 [χ2]) and with sex, age, or highest level played (P < .001 [χ2]). CONCLUSIONS: This study identified a high prevalence of cavus foot among soccer players of all ages, with an increased prevalence among higher-level players. The injury risk factors were female sex, older age, playing at a higher level, and cavus feet.

Double and Triple Tarsal Fusions in the Complex Cavovarus Foot.

The cavovarus (cavus) foot is one of the most perplexing and challenging of all foot deformities and may prove to be one of the most difficult conditions to treat. This deformity is characterized by increased plantar flexion of the forefoot and midfoot in relation to the hindfoot resulting in high foot arch. Because cavus foot rarely occurs in an isolated form, the term "cavus foot" rather describes a part of a complex multiplanar foot deformity. Because the underlying disease is mostly neurogenic characterized by muscle imbalance in almost every case a combined bony and soft tissue surgery is inevitable.

Joint preserving procedures for painful plantar callosities in patients with flexible cavovarus foot.

BACKGROUND: The outcome of a constant joint preserving procedure for painful plantar callosities with cavovarus foot remains unclear. METHODS: Eleven patients (11 feet) who underwent lateral displacement calcaneal osteotomy (LDCO), dorsiflexion first metatarsal osteotomy (DFMO), and plantar fasciotomy (PF), simultaneously were included. The presence of painful callosities, heel alignment of standing (HA), and the Japanese Society for Surgery of the Foot ankle/hindfoot (JSSF) score were evaluated. Radiographically, the talonavicular coverage angle (TNCA), lateral talo-first metatarsal angle (LTMA), calcaneal pitch angle (CPA), and heel alignment angle (HAA) were measured. RESULTS: Postoperatively, painful plantar callosities disappeared in 10 patients and remained in one patient. The postoperative HA and JSSF score significantly improved. The postoperative TNCA, LTMA, CPA, and HAA significantly improved. CONCLUSIONS: In patients with flexible cavovarus foot, LDCO, DFMO, and PF yielded good outcomes at mid-term follow-up with preservation of the foot and ankle joints.