Jacobs Journal of Orthopedics and Rheumatology
Transkript
Jacobs Journal of Orthopedics and Rheumatology
JACOBS PUBLISHERS OPEN ACCESS Jacobs Journal of Orthopedics and Rheumatology Case Report Tibiotalocalcaneal Arthrodesis of A Wheelchair-Dependent Seventeen-Year Old Adolescent with Hyperimmunoglobulin E Syndrome Developed Juvenile Idiopathic Arthritis Aydın ARSLAN1*, Ali UTKAN2, Reşit SEVİMLİ3 Department of Orthopedics, State Hospital, Malatya, Turkey 1 Department of Orthopedics, Ankara Numune Training and Research Hospital, Ankara, Turkey 2 Department of Orthopaedics, Inonu University, Turgut Ozal Medical Center Malatya, Turkey 3 *Corresponding author: Dr. Aydin ARSLAN, Department of Orthopedics, State Hospital, Malatya, Turkey, Tel: +905072311411; Email: draarslan@hotmail.com Received: 06-26-2015 Accepted: 10-08-2015 Published: 10-16-2015 Copyright: © 2015 Aydin Abstract Juvenile idiopathic arthritis (JIA) is the most common rheumatologic disease seen in children. The etiology of the disease still remains unclear, but it is believe viral and bacterial infections, epigenetic and perinatal factors, malnutrition and various other genetic and environmental causes are primarily responsible. A prolonged active phase of the JIA increases the risk of permanent damage in the joints, exacerbates functional problems and decreases quality of life. Hyper immunoglobulin E syndrome is a rare immune deficiency disease seen in children. This case report presents a 17-year-old adolescent who had hyper-IgE and developed the oligoarticular subtype of JIA. He was unable to walk and he had been experiencing this situation for two years due to ankle deformity. The patient’s joint complaints started when he was thirteen years old, during which time he experienced swelling in his wrists followed by involvement of the left elbow, left knee and right ankle. The patient underwent tibiotalocalcaneal arthrodesis using intramedullary nailing for severe tibiotalar and hind foot deformity. On the 10th postoperative week, patient was able to walk with full weight bearing. The patient’s preoperative AOFAS (American Orthopedic Foot and Ankle Society) score improved from 20 to 79 one year after the operation. Treatment for JIA requires a multidisciplinary approach. In this case, the rapid progression of the disease resulted in wheelchair dependency, the impact of which affected the patient and his family’s compliance negatively. The patient, however, regained his ability to walk after an ankle arthrodesis and this shows that quality of life can be dramatically increased in these patients with proper surgical interventions. Cite this article: Arslan A. Tibiotalocalcaneal Arthrodesis of A Wheelchair-Dependent Seventeen-Year Old Adolescent with Hyperimmunoglobulin E Syndrome Developed Juvenile Idiopathic Arthritis. J J Ortho Rheum. 2015, 1(3): 012. 2 Jacobs Publishers Introduction Juvenile idiopathicarthritis (JIA), accompanied with heterogeneous symptoms, is a disease characterized by chronic arthritis and signs in patients younger than 16 years of age, and can last for more than 6 weeks, without an apparent cause. The pathogenesis of JIA still remains unknown, but genetic interactions and environmental factors are largely viewed as the most likely causes. A prolonged active phase of the disease increases the risk of permanent damage in joints, exacerbates functional problems and decreases quality of life [1,2]. Hyperimmunoglobulin E syndrome (Job’s syndrome), is a rare immune deficiency disease characterized by high IgE levels, neutrophil chemotaxis disorders and varying T-cell function impairment. Pyogenic infection liability and atopic chronic eczema are seen mostly in this condition [3]. In this case report, the treatment approach and results of tibiocalcaneal arthrodesis surgery in a 17-year-old adolescent with hyper IgE syndrome for a long duration, was diagnosed JIA disease four years ago and unable to walk for 2 years due to ankle deformity. Informed consent was obtained from the patient and Institutional review board approved the presentation of this case report. Case A 17-year-old male patient presented to our clinic with the inability to walk and he had been experiencing it for two years due to ankle deformity. The patient had been diagnosed with immune deficiency (hyper IgE syndrome) and in his following examinations, persistent skin infections were encountered and was administered monthly IVIg treatment in his childhood. The patient’s joint complaints started when he was thirteen years old, during which time he experienced swelling in his wrists followed by involvement of the left elbow, left knee and right ankle. He received steroid and methotrexate treatment for inflammatory arthritis during the first six months of his disease. However, these treatments were ineffective. Adalimumab (ADA) administration had been interrupted eighteen months ago and 50 mg/week of etanercept (ETN) had been initiated, we have added methotrexate 10 mg/week to the medical treatment. Monthly IVIg administration is continued. Despite all these treatment, his sedimentation and C-reactive protein levels still remained elevating. On physical examination, left corneal opacity related to prior fungal infection was present. Deformity was present on both elbows, with a more apparent flexion contracture and swelling on the left elbow. Both wrist and hand joints were deformed, severe destruction was present on the right hand on the 2nd metacarpophalangeal joint and there was boutonniere deformity on the 2nd proximal interphalangeal joint. Bilateral hip pain was present and hip motions were limited, with the left being more severe. Both knees were swollen, particularly more so on the left knee. Varus deformity and instability was noted in the right ankle (Figure 1). When he bore weight with his right ankle, the ankle would dislocate posteromedially from tibiotalar joint. He was unable to walk due to this deformity and became wheelchair dependent. Figure 1. Varus deformity and posteromedial instability of right ankle. On the radiography, right hand 2nd metacarpophalangeal joint surface, phalange and metacarpal bone were eroded, and second digit’s proximal phalange was dislocated to palmar side. Severe bone erosion was present on the left elbow chondral surfaces. Right trochanter major was separated and dislocated to superior and left hip was dislocated. In the plain radiography, bone erosion was present at right distal tibia, specifically at medial malleolus and talar dome. Dislocation of the right ankle joint was seen on the plain radiography, on the horizontal section and on the three dimensional computed tomography (Figure 2A,B,C,D). Figure 2A. preoperative anteroposterior plain radiography of both Cite this article: Arslan A. Tibiotalocalcaneal Arthrodesis of A Wheelchair-Dependent Seventeen-Year Old Adolescent with Hyperimmunoglobulin E Syndrome Developed Juvenile Idiopathic Arthritis. J J Ortho Rheum. 2015, 1(3): 012. 3 Jacobs Publishers ankle and tibia. Figure 2D. preoperative three-dimensional computed tomography of right ankle. Figure2B: preoperative lateral plain radiography of right ankle. A 12-cm incision was made over lateral malleolus (Figure 3). Fibular osteotomy was performed from distal 1/3. Tibiotalar and talocalcaneal chondral surfaces were debrided using a curette and osteotome. A guide wire was inserted from the heel for proper positioning of the nail. Nail was inserted through the heel. Arthrodesis position was 5 degrees valgus, neutral flexion and 5 degrees external rotation. 2 distal and 2 proximal screws were used to lock the nail while it was compressed to arthrodesis surfaces, during operation, the patient’s cancellous bone at talus and calcaneus were observed to be very soft. Because of this, fibula distal end was fixed to calcaneus and tibia using cortical screws to increase stability. Postoperative images are seen in figure 4A-B. Figure 2C. preoperative horizontal section computed tomography of right ankle, fibula tibia and talus are seen in the same section. The patient’s acute phase reactants were Sedimentation: 89 mm/hour(0-20) and CRP: 20.4 mg/dl (0-0.8), and rheumatoid factor (RF) was 8.3 IU/ml (0-20) with anti-nuclear antibody positivity. Thyroid function tests and cortisol levels were normal. Because patient was in active phase, 120 mg of prednisolone was administered as infusion. Laboratory tests were repeated and patient was prepared for ankle arthrodesis after acute phase reactants were decreased. Tibiotalocalcaneal arthrodesis was planned for severe tibiotalar and hind foot deformity. Figure 3. incision of lateral trans fibular approach. Cite this article: Arslan A. Tibiotalocalcaneal Arthrodesis of A Wheelchair-Dependent Seventeen-Year Old Adolescent with Hyperimmunoglobulin E Syndrome Developed Juvenile Idiopathic Arthritis. J J Ortho Rheum. 2015, 1(3): 012. 4 Jacobs Publishers Figure 4A. Postoperative image of right ankle. Figure 4C. Post operative 6th month lateral plain radiography of right ankle. Discussion Figure 4B. Post operative 6th month anteroposterior plain radiography of right ankle. Juvenile idiopathic arthritis is the most common rheumatologic disease seen in children. The etiology of the disease still remains unclear, but it is believed that viral and bacterial infections, epigenetic and perinatal factors, malnutrition and other genetic and environmental causes are primarily responsible [1,2,4]. Prognosis is related to many factors when the 7 subtypes of JIA, which include systemic arthritis, persistent oligoarthritis, extended oligoarthritis, rheumatoid factor negative-polyarthritis, rheumatoid factor positive-polyarthritis, psoriatic arthritis, enthesitis-related arthritis and undifferentiated arthritis, are considered [5]. Fever and poliarticular involvement in the first six months is indicative of disease activity and associated with poor prognosis in the systemic type [6]. In the oligoarticular type, the severity of the arthritis in the first two years impacts the degree of joint damage, and therefore the prognosis [7]. The present case was classified as an oligoarticular JIA due to the oligoarticular pattern of joint involvement, seronegativity, ANA positivity and bilateral sacroiliitis. The prognosis in this case was very poor, despite the biological drug treatment. There were severe joint damages, Cite this article: Arslan A. Tibiotalocalcaneal Arthrodesis of A Wheelchair-Dependent Seventeen-Year Old Adolescent with Hyperimmunoglobulin E Syndrome Developed Juvenile Idiopathic Arthritis. J J Ortho Rheum. 2015, 1(3): 012. 5 Jacobs Publishers especially in the right ankle, which resulted in wheelchair dependency. The patient’s preoperative AOFAS (American Orthopedic Foot and Ankle Society) score was 20. The main goal of JIA treatment is to control pain and suppress the inflammatory process. The preservation of physiological joint movement is also crucial. JIA treatment requires a multidisciplinary approach, where a pediatric rheumatologist, child psychiatrist, orthopedic surgeon and treatment nurse should work together during all stages of the treatment. In addition to the medical treatment and physical therapy, surgical procedures are occasionally required. The classical treatment approach involves administering biological and cytotoxic drugs, disease-modifying anti-rheumatic drugs (DMARDs), systemic or intraarticular glucocorticoids and non-steroidal anti-inflammatory drugs (NSAIDs). After the introduction of biological drugs in 2000’s there was a dramatic improvement in the prognosis. These drugs target cytokines (TNFα), interleukin-1 (IL-1), interleukin-6 (IL-6) and signal molecules that regulate B and T cell response. These play a key role in rheumatoid arthritis pathogenesis as well as JIA pathogenesis [2,4,5]. Stem cell transplantations are performed in a limited number of centers [8]. Hyper-IgE syndrome was first described in 1972 by Buckley [9]. This syndrome is diagnosed generally as a hereditary autosomal dominant condition, sometimes seen sporadically, is a rare immune deficiency [3]. Coarse facial features, wide nasal bridge, prominent nose and imbalance between cheek and chin dimensions are among the distinctive features of the condition [8]. Our patient displayed the described physical characteristics. He presented no evidence of an active focal infection or skin lesion that may suggest a pyogenic infection. In the 17-year long follow-up study conducted by Minden et al., it was reported that joint operations were performed on 45% of the patients. Usually early synovectomy was performed to slow down disease progression; however, this procedure’s effect on limited joint movement and prevention of limb length discrepancy has not been reported. Other rarely reported surgical interventions are hip and knee arthroplasties [10]. In another study by Zak M and colleagues in their long-term follow-up of 65 JIA patients, it was reported that 22% of the patients had undergone JCA related major surgical interventions, which included prosthetic hip replacements, femoral head resection, prosthetic knee replacement, leg extension, cervical spine fusion, mandibular correction, arthrodesis of the radiocarpal joint, arthrodesis of the first metacarpophalangeal joint and arthrodesis of the foot joint [11]. To mobilize the patient, his medical treatment was regulated and surgery and postoperative rehabilitation were planned. The patient was unable to stand due to instability in his right ankle. Tibiotalocalcaneal arthrodesis was performed to address the involvement in right ankle, which had severe bone erosion. Tibiotalocalcaneal arthrodesis using intramedullary nailing was preferred because it provides more stable fixation in osteopenic bones and better compression [12]. The biggest disadvantage of other methods with multiple screws, wires or plates is the restrictionson early weight bearing and nonunion defects [13]. Tibiotalocalcaneal arthrodesis using retrograde nailing is preferred in patients with severe deformity, significant instability, tumor resections, post-traumatic bone defects and arthritis, avascular necrosis of the talus, rheumatoid arthritis, Charcot neuropathy, neurovascular diseases, residual pes-equinovarus and failed ankle arthrodesis [12-14]. In patients with disuse atrophy, early weight bearing has the advantage of accelerating fusion as well as regaining extremity function [15]. Disuse atrophy was present in this patient as a result of his inability to walk for two years. Retrograde intramedullary nailing is contraindicated in active infection, circulatory disorders, plantar fat pad insufficiency and distal tibial end angular deformities [12-14]. Tibiotalocal caneal arthrodesiscan be performed both open or arthroscopically. It is most commonly performed using open technique. Lateral, posterior or anterior approaches can be used. In the lateral approach, the talotibial and talocalcaneal joints can be reached via fibula osteotomy. If required, fibula osteotomy can be combined with medial malleolar osteotomy in all approaches. The fibula can be involved in arthrodes is to support the fusion line. In this case, the fibula was involved in the arthrodesis. In previous tibiotalocal caneal arthrodesis series where a retrograde intramedullary nail through transfibular approach was used %76-96 fusion rates was reported [16-21]. Talocalcaneal locking screws at the distal nail increases stability in osteopenic situations like rheumatoid arthritis, Charcot arthropathy etc. [22]. In the present case, due to these mentioned situations, a nail with talocalcaneal oriented locking screw was used for arthrodesis (figure 4C). Stretching and strengthening exercises, electrotherapy, proprioceptive education, walking therapy and in-house rehabilitation were initiated post operatively. Partial weight bearing was allowed during the postoperative 2nd week, and the patient was mobilized with the use of a single crutch by the 6th week. Full weight bearing and pain-free walking was achieved on the10th week. The patient’s preoperative AOFAS (American Orthopedic Foot and Ankle Society) score improved from 20 to 79 one year after the operation. Conclusion JIA treatment requires a multidisciplinary approach. In this case, the rapid progression of the disease resulted in wheelchair dependency, and negatively affected the patient and his family’s compliance with the treatment. However, the Cite this article: Arslan A. Tibiotalocalcaneal Arthrodesis of A Wheelchair-Dependent Seventeen-Year Old Adolescent with Hyperimmunoglobulin E Syndrome Developed Juvenile Idiopathic Arthritis. J J Ortho Rheum. 2015, 1(3): 012. 6 Jacobs Publishers patient regained his ability to walk after an ankle arthrodesis and this shows that quality of life can be dramatically increased in these patients with proper surgical interventions. 11. Zak M, Pedersen FK. Juvenile chronic arthritis into adulthood: a long-term follow-up study. Rheumatology. 2000, 39(2): 198–204. No funding sources 13. Frey C, Halikus NM, Vu-Rose T, Ebramzadeh E. A review of ankle arthrodesis: predisposing factors to nonunion. Foot Ankle Int. 1994, 15(11): 581-584. Acknowledgements References 1. Rigante D, Bosco A, Esposito S. The Etiology of Juvenile Idıopathic Arthritis. Clin Rev Allergy Immunol. 2014. 2. Huang JL. New advances in juvenile idiopathic arthritis. Chang Gung Med J. 2012, 35(1): 1-14. 3. Grimbacher B, Schäffer AA, Holland SM. Genetic linkage of hyper-IgE syndrome to chromosome 4. Am J Hum Genet. 1999, 65(3): 735-744. 4. Eisenstein EM, Berkun Y. Diagnosis and classification of juvenile idiopathic arthritis. J Autoimmun. 2014, 48-49(2): 31-33. 5. Prieur AM, Chedeville G. Prognostic factors in juvenile idiopathic arthritis. CurrRheumatol Rep. 2001, 3(5): 371378. 6. Tugal-Tutkun I, Quartier P, Bodaghi B. Disease of the year: juvenile idiopathic arthritis-associated uveitis—classification and diagnostic approach. OculImmunolInflamm. 2014, 22(1): 56-63. 7. Kahn P. Juvenile idiopathic arthritis: an update fort the clinician. Bull NYU HospJt Dis. 2012, 70(3): 152-166. 8. Brinkman DM. Autologous stem cell transplantation in children with severe progressive systemic or polyarticular juvenile idiopathic arthritis: longterm follow up of a prospective clinical trial. Arthritis Rheum. 2007, 56(7): 2410_2421. 9. Buckley RH, Wray BB, Belmaker EZ. Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics. 1972, 49(1): 59-70. 10. Minden K, Niewerth M, Listing J, Biedermann T, Bollow M et al. Long-term outcome in patients with juvenile idiopathic arthritis. Arthritis Rheum. 2002 , 46(9): 2392-2401. 12. Stone KH, Helal B. A method of ankle stabilization. ClinOrthopRelat Res. 1991, 268: 102-106. 14. Pinzur MS. Kelikian A. Charcoat Ankle Fusion with a retrograde locked intramedullary nail. Foot Ankle Int. 1997, 18(11): 699-704. 15. Fujimori J, Yoshino S, Koiwa M, Nakamura H, Shiga H et al. Ankle arthrodesis in rheumatoid arthritis using an intramedullary nail with fins. Foot Ankle Int. 1999, 20(8): 485490. 16. Boer R, Mader K, Penning D, Verheyen CC. Tibiotalocalcaneal arthrodesis using a reamed retrograde locking nail. ClinOrthopRelat Res. 2007, 463: 151-156. 17. Chou LB, Mann RA, Yaszay B, Graves SC, McPeake WT et al. Tibiotalocalcaneal arthrodesis. Foot Ankle Int. 2000, 21(10): 804-808. 18. Pelton K, Hofer JK, Thordarson DB. Tibiotalocalcaneal arthrodesis using a dynamically locked retrograde intramedullary nail. Foot Ankle Int. 2006, 27(10): 759-763. 19. Hammett R, Hepple S, Forster B, Winson I. Tibiotalocalcaneal (hindfoot) arthrodesis by retrograde intramedullary nailing using a curved locking nail. The results of 52 procedures. Foot Ankle Int. 2005, 26(10): 810-815. 20. Goebel M, Gerdesmeyer L, Mückley T, Schmitt-Sody M, Diehl P et al. Retrograde intramedullary nailing in tibiotalocalcaneal arthrodesis: a short-term, prospective study. J Foot Ankle Surg. 2006, 45(2): 98-106. 21. Niinimäki TT, Klemola TM, Leppilahti JI. Tibiotalocalcaneal arthrodesis with a compressive retrograde intra-medullary nail:a report of 34 consecutive patients. Foot Ankle Int. 2007, 28(4): 431-434. 22. O’Neill PJ, Parks BG, Walsh R, Simmons LM, Schon LC. Biomechanical analysis of screw-augmented intramedullary fixation for tibiotalocalcaneal arthrodesis. Foot Ankle Int. 2007, 28(7): 804-809. Cite this article: Arslan A. Tibiotalocalcaneal Arthrodesis of A Wheelchair-Dependent Seventeen-Year Old Adolescent with Hyperimmunoglobulin E Syndrome Developed Juvenile Idiopathic Arthritis. J J Ortho Rheum. 2015, 1(3): 012.