Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis.

BACKGROUND: Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported. Hereby we report this unique association with CACP syndrome. CASE: An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea. She was diagnosed CACP syndrome at the age of seven and a biallelic frameshift mutation in the PRG4 gene was determined. The physical examination revealed pectus excavatum, camptodactyly, genu valgum, tachypnea and orthopnea. The functional capacity was NYHA III-IV. She had 2/6 soft pansystolic murmur at 4th left intercostal space and a rumbling diastolic murmur at apex. Echocardiography revealed an enlarged left atrium, severe stenotic mitral valve with a mean diastolic transmitral gradient of 22.5 mmHg, mild mitral regurgitation and mild apical pericardial effusion. The patient had mitral comissurotomy and partial pericardiectomy operation. Her post-operative transmitral gradient decreased to 6.9 mmHg and the pulmonary pressure was 30 mmHg. Her functional capacity increased to NYHA I-II. CONCLUSIONS: The main defect is the proteoglycan 4 protein which acts like a lubricant in articular and visceral surfaces. Therefore, the leading clinical feature is arthropathy. Cardiac involvement other than clinically mild pericarditis is not usually expected. Three types of proteoglycans (decorin, biglycan, and versican) are present in the mitral valve. This could be the reason of mitral valve involvement in rare cases as like ours. It is important that these patients undergo echocardiographic examination regularly.

The Differentiation Between Infection and Acute Charcot.

The differentiation between acute Charcot neuroarthropathy and infection in the foot and ankle should be supported by multiple criteria. A detailed history and physical examination should always be completed. Plain radiographs should be performed, though advanced imaging, currently MRI, is more helpful in diagnosis. Scintigraphy and PET may become the standard imaging modalities once they are more clinically available due to their reported increased accuracy. Laboratory analysis can also act as a helpful diagnostic tool. Histopathology with culturing should be performed if osteomyelitis is suspected. The prompt diagnosis and initiation of treatment is vital to reducing patient morbidity and mortality.

Prevalence of Ankle Charcot Neuroarthropathy Presenting in a Tertiary Care Center.

Charcot neuroarthropathy's (CN) anatomic classification was originally formulated by the Brodsky article and the Trepman et al modification, including midfoot (type 1), rearfoot (type 2), ankle (type 3a), calcaneus (type 3b), multiarticular (type 4), and forefoot (type 5). In these classic studies, ankle joint and multijoint CN are reported as 9% and 6% to 9%, respectively, but we believe ankle CN to be more common than that in a tertiary setting. We retrospectively reviewed patients presenting initially or as referral between 2004 and 2020. Initial presentation radiographs were reviewed and classified by 3 authors based on Brodsky's model with Trepman and colleagues' modification, and any discrepancies were reviewed by the fourth author. A total of 175 patients (205 feet) were assessed. This revealed 80 cases classified as type 1 (39.0%), 23 cases type 2 (11.2%), 17 cases type 3a (8.3%), 2 cases type 3b (1.0%), and 83 cases type 4 (40.5%). After subdividing type 4, total prevalence included 150 with type 1 anatomic location (73.2%), 103 type 2 (50.2%), 44 type 3a (21.5%), and still 2 type 3b (1.0%). This study revealed a similar prevalence of isolated ankle CN (8.5%) compared to the Trepman et al article (9%), however, in total, ankle CN (21.5%) occurred 2.4-times more than the original 9%. Our study also found there to be a higher prevalence of ankle CN in the setting of multiarticular CN, which has not been evaluated in past studies. The prevalence of multiarticular CN was found to be 4.5-fold greater than the Trepman article (6%-9%).

Biomarkers for Early Detection of Charcot Arthropathy: A Prospective Study on Type 2 Diabetes Patients with Severe Neuropathy.

BACKGROUND: Charcot arthropathy (CA) is a progressive noninfectious inflammatory disease that causes irreversible destruction to pedal architecture in diabetic neuropathy (DN) patients. The debilitating prognosis demands early detection to prevent the development and progression of this disorder. Dysregulated and persistent production of inflammatory cytokines is reported as the key element in initiating osteoclastogenesis in CA. The study analyzed the potential association of markers of inflammation and bone turnover of prediagnostic serum samples on CA. METHODS: Seventy-one type 2 severe DN patients were selected based on inclusion-exclusion criteria. Serum samples of interleukin 6 (IL-6), osteoprotegerin (OPG), bone alkaline phosphatase (BALP), and C-reactive protein (CRP) were analyzed. These patients were followed for the development of symptoms of CA for 12 months. In the year of monitoring, 7 patients developed CA (group 1), whereas the remaining 64 patients did not develop CA (group 2). RESULTS: The rate of development of CA in patients with severe DN was 9.8%. In this group, significantly increased median values of HbA1c (group 2: 8.00 [7.00-9.00], group 1: 10.00 [9.25-11.50], P = .013); IL-6 (group 2: 1.21 [0.72-2.16], group 1: 11.08 [6.65-63.64], P = .008); and CRP (group 2: 1.25 [0.78-3.20], group 1: 3.31 [1.18-41.33], P = .041) were found. The receiver operating characteristic analysis showed that IL-6 was more strongly associated with the onset of CA (IL-6: area under the curve = 0.808; P = .008) than CRP. Cut-off values of ≥6.6 for IL-6 show potential to rule out CA in high-risk patients, with a positive predictive value of 26.1%, a negative predictive value of 97.9%, a sensitivity of 85.7%, and a specificity of 73.4%. CONCLUSION: In our study population, we found that an exacerbated inflammatory state, reflected by IL-6 values, generally occurred in DN patients before the clinical detection of CA. LEVEL OF EVIDENCE: Level II, prospective comparative study.

Charcot Foot Beaming with Subsequent Titanium Allergy: A Case Report.

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Management of the Hindfoot and Ankle in Charcot Arthropathy.

Neuropathic destabilization of the hindfoot and/or ankle is a significant complication for the patient with diabetes/neuropathy. The loss of ligamentous integrity and bony destruction results in a limb that is not stable for weight bearing. This loss of independence adds significant health risks to the patient. Management of this disease process is both time consuming and technically demanding for both the practitioner and the patient. Attention to detail and aggressive decision making is often necessary to salvage the limb. The goal for treatment is to produce a stable, weight-bearing limb that is shoeable and free from soft-tissue ulceration.

Management of Infections and Osteomyelitis in Patients With Charcot Foot Arthropathy.

There is growing interest in performing reconstruction of deformities associated with Charcot foot arthropathy. At least half of the patients undergoing this reconstruction will have chronic wounds and osteomyelitis overlying the deformity. It is important to provide orthopaedic surgeons with tools for making the diagnosis of osteomyelitis in this patient population and creating a strategy for treatment.

Midfoot Fusion Using Superconstructs for the Charcot Foot: Current Techniques and Complications.

Neuroarthropathy of the foot and ankle presents a series of challenges. The treating physician faces a perfect storm of pathomechanics, deformity, and medical comorbidities. Successful treatment requires a systematic approach in diagnosis, nonsurgical management, surgical management, and long-term maintenance of the affected extremity. Nonsurgical care of the Charcot foot remains the mainstay of treatment and is successful in most cases. Surgery has become more accepted for patients with severe deformity. The concept of a superconstruct has been introduced to describe modern surgical techniques and implants that have been developed since the early 2000s where stability and durability are maximized. A superconstruct is defined by four factors: (1) fusion is extended beyond the zone of injury to bridge the area of bony dissolution; (2) aggressive bone resection is performed to allow for adequate reduction of deformity without undue tension on the soft-tissue envelope; (3) stronger implants are used than for nonneuropathic fusion procedures, including some specifically developed for fixation of the Charcot foot; and (4) the devices are applied in a position that maximizes mechanical stability to allow the implants to become load sharing. It is important to review the current techniques and implants used in fusion of the neuropathic midfoot and discuss the expected outcomes and complications based on the authors' experience.

Charcot Arthropathy of the Digit: A Report of 2 Cases.

CASE: Charcot arthropathy (CA) is a progressive degenerative joint disease typically affecting lower extremity weight-bearing joints, with only a few cases reported in the fingers. We present 2 cases of interphalangeal joint CA: the long finger distal interphalangeal joint in a 73-year-old man with severe carpal tunnel syndrome and the ring finger proximal interphalangeal joint of a 71-year-old woman with diabetic neuropathy. CONCLUSION: Two cases of CA of the digits were treated with splinting with resolution of symptoms and no wound complications.

Early Diagnosis of Late-Onset Below-Level Neuropathic Pain in an 83 Year-Old Incomplete Tetraplegic Patient: A Charcot Spinal Neuro-Arthropathy Case Report.

BACKGROUND Charcot spine (CS), also called neuropathic arthropathy, appears to be triggered by damage to the nervous system (either central or peripheral) impairing proprioception and pain/temperature sensation in the vertebral column. Therefore, the defense mechanisms of altered joints lead to a progressive degeneration of the vertebral joint and surrounding ligaments, which can provoke major spinal instability. Beyond the sensory aspects, mechanic factors are identified as risk factors. While its etiology and pathophysiology remain contested, CS represents a rare and difficult pathology to diagnose at an early stage, owing to its nonspecific clinical symptoms. The diagnosis of CS is probably still underestimated and often occurs only quite late in the disease course. CASE REPORT An 83-year-old male patient who had a history of a post-traumatic tetraplegia was diagnosed with CS after 3 years, after describing a recent progressive worsening of neuropathic pain. The diagnosis was earlier than the majority of cases described in the literature. Indeed, in a recent review, the mean time lag between the onset of neurological impairment and the diagnosis of CS was 17.3±10.8 years. CONCLUSIONS This case report demonstrates the benefits of early diagnosis of CS when confronted by the clinical and radiological criteria. Therefore, it seems important to be able to evoke this neuropathic spinal arthropathy sufficiently in time to prevent its disabling consequences in patients with spinal cord injury, in terms of quality of life and independence.

[Progress in clinical diagnosis and treatment of diabetic Charcot neuroarthropathy of foot and ankle].

Objective: To summarize the progress of clinical diagnosis and treatment of diabetic Charcot neuroarthropathy (CNO) of foot and ankle to provide reference for clinical treatment. Methods: The research literature on diabetic CNO of foot and ankle at home and abroad was widely reviewed, and the stages and classification criteria of CNO were summarized, and the treatment methods at different stages of the disease course were summarized. Results: CNO is a rapidly destructive disease of bone and joint caused by peripheral neuropathy, which leads to the formation of local deformities and stress ulcers due to bone and joint destruction and protective sensory loss, which eventually leads to disability and even life-threatening. At present, the modified Eichenholtz stage is a commonly used staging criteria for CNO of foot and ankle, which is divided into 4 stages by clinical and imaging manifestations. The classification mainly adopts the modified Brodsky classification, which is divided into 6 types according to the anatomical structure. The treatment of diabetic CNO of foot and ankle needs to be considered in combination with disease stage, blood glucose, comorbidities, local soft tissue conditions, degree of bone and joint destruction, and whether ulcers and infections are present. Conservative treatment is mainly used in the active phase and surgery in the stable phase. Conclusion: The formulation of individualized and stepped treatment regimens can help improve the effectiveness of diabetic CNO of foot and ankle. However, there is still a lack of definitive clinical evidence to guide the treatment of active and stable phases, and further research is needed.

Charcot arthropathy outcomes after early referral to a regional tertiary care foot clinic.

BACKGROUND: Community physicians may not encounter Charcot arthropathy frequently, and its symptoms and signs may be nonspecific. Patients often have a delay of several months before receiving a formal diagnosis and referral for specialty care. However, limited Canadian data are available. We evaluated the clinical history, treatment and outcomes of patients treated for Charcot arthropathy after prompt referral and diagnosis. METHODS: We performed a retrospective chart review of 76 patients with diabetes (78 feet) who received nonoperative treatment for Charcot arthropathy in a specialty foot clinic between Jan. 20, 2009, and Mar. 26, 2018. Patients were referred to the foot clinic by community physicians for evaluation or were pre-existing patients at the foot clinic with new-onset Charcot arthropathy. RESULTS: Of the 78 feet included in our analyses, 52 feet (67%) were evaluated initially by a community physician and referred to the foot clinic, where they were seen within 3 ± 5 weeks. The remaining 26 feet (33%) were already being treated at the foot clinic. Most feet had swelling, erythema, warmth, a palpable pulse and loss of protective sensation. Ulcers were present initially in 23 feet (29%). Sixty-four feet (82%) with Charcot arthropathy were in Eichenholtz classification stage 1 and most had midfoot involvement. Nonoperative treatment included total contact casting (60 feet, 77%). Mean duration of nonoperative treatment until resolution for 55 feet (71%) was 6 ± 5 months. Surgery was performed on 20 feet (26%) for the treatment of infection and recurrent ulcer associated with deformity, including 6 (8%) lower limb amputations. CONCLUSION: Charcot arthropathy may resolve in most feet with early referral and nonoperative treatment, but remains a limb-threatening condition.

[Functional evaluation and quality of life in the follow-up of patients with Charcot arthropathy treated by ankle arthrodesis with a locked retrograde nail]. / Evaluación funcional y de calidad de vida en el seguimiento de pacientes con artropatía de Charcot tratados mediante artrodesis de tobillo con clavo centromedular retrógrado bloqueado.

INTRODUCTION: Charcot's arthropathy is a disabling non-infectious, progressive condition characterized by bony and articular destruction in patients with sensory neuropathy. In advanced cases with deformities and ankle instability, it requires a more invasive treatment as an ankle fusion with a retrograde locked intramedullary nail. It is unknown if, in these patients, the functional results of AOFAS (American Orthopaedic Foot and Ankle Society) correlate with the quality of life ones from the EuroQol-5D test and the possible postoperative complications. MATERIAL AND METHODS: the design is experimental, longitudinal prospective with ambispective data analysis (retrospective and prospective) to evaluate the functional results and life quality with a year of following patients with Charcot's arthropathy diagnosis treated with a retrograde locked nail from January 1, 2010, to November 1, 2018. RESULTS: this study resulted in complete consolidation from nine out of 11 cases, with a success rate of 81.2%, and only two cases (18.2%) developed nonunion. AOFAS and EuroQol-5D tests correlate positively in agreement with the Pearson correlation. CONCLUSIONS: AOFAS and EuroQol-5D correlate positively, having a 45 and 63% of acceptable and satisfactory results, respectively, for both tests.

INTRODUCCIÓN: la artropatía de Charcot es una condición incapacitante, no infecciosa, progresiva, que se caracteriza por destrucción ósea y articular en pacientes con neuropatía sensorial. En casos avanzados, en los que se tiene deformidad severa e inestabilidad de tobillo, se requieren procedimientos más invasivos como la artrodesis de tobillo con clavo centromedular retrógrado bloqueado. Se desconoce si en estos pacientes las puntuaciones de la valoración funcional postquirúrgica con la escala de AOFAS (American Orthopaedic Foot and Ankle Society) correlaciona con las puntuaciones de la escala de calidad de vida medida con el test EuroQol-5D y las posibles complicaciones postquirúrgicas. MATERIAL Y MÉTODOS: se trata de un ensayo autocontrolado de práctica clínica habitual, cuasiexperimental, longitudinal y prospectivo con recolección ambispectiva (retrospectiva y prospectiva) de datos para evaluar los resultados funcionales y de calidad de vida a un año de seguimiento de los pacientes con artropatía de Charcot tratados mediante artrodesis de tobillo con clavo centromedular retrógrado bloqueado del 1 de Enero de 2010 al 1 de Noviembre de 2018. RESULTADOS: la consolidación se logró en nueve casos de un total de 11 pacientes para una tasa de éxitos de 81.8% y únicamente dos casos (18.2%) en los cuales no se observó consolidación. Las escalas de AOFAS y EuroQol-5D se correlacionaron positivamente de acuerdo con la correlación de Pearson. CONCLUSIONES: las escalas de AOFAS y EuroQol-5D se correlacionan positivamente, obteniéndose 45 y 63% con resultados aceptables y satisfactorios respectivamente en ambas escalas.

Total knee arthroplasty for neuropathic arthropathy in a patient with leprosy.

Patients with leprosy are known to tend to develop neuropathic arthropathy, known as Charcot joint. There are no case reports of total knee arthroplasty (TKA) in patients with leprosy with polyarticular neuropathic arthropathy, and the results are unknown. In this study, we report a case of TKA in a patient with leprosy with polyarticular neuropathic arthropathy and discuss its outcomes and indications. Right TKA using the NexGen Legacy Constrained Condylar Knee implant was performed in a 62-year-old man with neuropathic arthropathy in multiple joints with clinical symptoms, particularly in the right knee. Seven years post-operation, the American Knee Society Score-knee and -function, which represent knee function and activities of daily living on a scale of 100 points, were significantly improved compared with preoperative values, from 30 to 99 points and 0 to 60 points, respectively. Indications for arthroplasty for neuropathic arthropathy should be carefully considered in each individual case. In this case, the patient had neuropathic arthropathy in multiple joints; however, TKA was performed because recovery of function in the right knee was expected to significantly improve the patient's activities of daily living, and a good mid-term clinical outcome was achieved. Therefore, indications for arthroplasty should be considered in patients with systemic neuropathic arthropathy such as leprosy, and with accurate assessment and appropriate implant selection, good long-term outcomes may be expected.

Management of Midfoot Charcot: Minimally Invasive Techniques and Improved Fixation.

The objective of this article is to review the etiology and pathophysiology of Charcot neuroarthropathy as it contributes to the breakdown of the midfoot. The article will also discuss the emerging techniques in minimally invasive surgery and how this is applied to Charcot reconstructive surgery as well as reflect on a newer thought processes to surgical intervention.

Evidence of Autoimmune Involvement in the Pathogenesis of Charcot Neuroarthropathy: A Novel Hypothesis with Preliminary Data.

Charcot neuroarthropathy is a devastating condition that places patients at risk for poor outcomes. Although the condition was first described in 1703, knowledge of the causative agent(s) has yet to be fully understood. Recent advances in genetic research have helped to identify potential mechanisms and pathways for the enigmatic destruction and deformities that are often associated with the condition; however, alternative pathways have been proposed. For the purpose of this discussion, we will discuss the human leukocyte antigen, which is one of the most researched contributors to autoimmune pathology and, more recently, has been linked to diabetic complications.

Pedal acrometastasis secondary to urothelial carcinoma masquerading as Charcot arthropathy in a patient with diabetes.

A woman in her 80s with known diabetes mellitus and bladder cancer presented to her general practitioner (GP) with pain and swelling in her left foot following trauma. Initial radiographs were reported as normal, prompting a diagnosis of a simple sprain and conservative management. Three months later, the patient was referred to the orthopaedic team due to progressively increasing pain and swelling. Repeat X-rays revealed lytic lesions in both the talus and navicular bones; MRI confirmed the presence of a lytic and proliferative defect in the mid-foot, which was reported as acute Charcot arthropathy with superimposed infection. This was also considered the most likely diagnosis when imaging was reviewed in two separate multidisciplinary team) meetings. However, biopsy demonstrated that the cause of the presentation was in fact acrometastasis from urothelial carcinoma, an infrequently described entity.

Presentation and Treatment of a Patient With Jacobs Syndrome and Metopic Craniosynostosis.

Jacobs syndrome is a rare trisomy (47, XYY) found in ~1 in 1000 male children associated with infertility, autism spectrum disorders, macrocephaly, hypertelorism, tall stature, and macroorchidism. Diagnosis is often delayed due to relatively subtle phenotypic changes. Craniosynostosis, a fusion of the cranial sutures, has been described in ~1 in 2000 live births, of which 25% are related to a diagnosed syndrome with the most common being Apert and Crouzon. Craniosynostosis does not have a known association with Jacobs syndrome and no prior cases have been reported. This case report seeks to describe the presentation and treatment of a patient with Jacobs syndrome and metopic craniosynostosis.

Charcot neuroarthropathy versus osteomyelitis: a case series.

INTRODUCTION: Patients with diabetes and peripheral neuropathy have a 25% risk of developing a foot ulcer, and these can lead to soft tissue infections that worsen and result in osteomyelitis. While Charcot neuroarthropathy is not as common as osteomyelitis, it is often misdiagnosed as osteomyelitis. CASE REPORTS: Three patients presented with diabetes, neuropathy, and foot ulcers. They underwent prophylactic surgery but later developed swelling at the surgical sites. Radiographs showed fragmentations that caused concern about osteomyelitis. The authors maintained diagnoses of Charcot neuroarthropathy and treated the patients with immobilization and offloading. All patients resolved the fragmentations without antibiotics or surgery. CONCLUSION: While Charcot neuroarthropathy and osteomyelitis have similar signs and symptoms, understanding the similarities and differences between the conditions can aid providers in appropriate wound management.