Cureus · 2026
Charcot Arthropaticy of the Peelter with Ipsionteral Wrist и First Carpometakarpal Shiri Malformation I Type with Syringomyelia.
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Alsuwaidi A, Farhi R, Fouad Ezzeldein Abdalrahman A, Verborgt O, Wasi A
Аннотация
Артропатия плеча является редким проявлением нервно - суставной болезни и чаще всего ассоциируется с шприцомелией. Когда это происходит, оно часто приводит к постепенному совместному разрушению, но из-за минимальной боли оно приводит к задержкам в диагностике. Мы сообщаем о случае 54-летней женщины, представлявшей трехмесячную историю опухоли левого плеча, деформации и жесткого ограничения диапазона движения, связанного с ипсиосторонней деформацией запястья. У пациента была известная история неправильной формы Кьяри первого типа с шприцомелией. В ходе клинического обследования была выявлена заметная деформация плеча с жестким ограничением активного движения и снижением ощущения в поврежденной конечности. Радиографы продемонстрировали глубокие разрушительные изменения гленохумерального сустава с деформацией головы плеча и расщеплением тел. МРТ выявила обширную эфлуцию плечевого сустава, атрофию мышечной мышцы ротатора с относительной дельтоидной консервацией и обширный шейный сиринкс от C2 до C7. Был установлен диагноз нервно-патологической (Чаркотской) артропатии плечевой части до порока чиари с шприцомилией. Дополнительная съемка показала уничтожение первого карпометакарпального (CMC) сустава с субхондральным склерозом, цистичными изменениями и ворональным подлеском первого метакарпала, а также ранние дегенеративные изменения на ипсиодном локте. У пациента была консервативная анальгетика, меры защиты и многодисциплинарная последующая деятельность. Артропатия плеча с помощью шаркота является необычным, но важным осложнением сирингомилии, связанным с пороком типа I Chiari. Это дело подчеркивает важность раннего распознавания нейропатической артропатии у пациентов с неврологическими заболеваниями. Совместное участие плеча, запястья и первого сустава CMC представляет собой необычную модель нейропатической артропатии верхних слоев и вносит свой вклад в существующую литературу о многообщинном участии.
Оригинал публикации
Charcot Arthropathy of the Shoulder With Ipsilateral Wrist and First Carpometacarpal Joint Involvement Secondary to Chiari Malformation Type I With Syringomyelia.
Charcot arthropathy of the shoulder is a rare manifestation of neuropathic joint disease and is most commonly associated with syringomyelia. When present, it often results in progressive joint destruction, but, due to minimal pain, it leads to delayed diagnosis. We report the case of a 54-year-old female presenting with a three-month history of left shoulder swelling, deformity, and severe restriction of range of motion, associated with ipsilateral wrist deformity. The patient had a known history of Chiari malformation type I with syringomyelia. Clinical examination revealed marked shoulder deformity with severe restriction of active motion and reduced sensation in the affected limb. Radiographs demonstrated advanced destructive changes of the glenohumeral joint with humeral head deformity and loose bodies. MRI revealed extensive shoulder joint effusion, rotator cuff muscle atrophy with relative deltoid preservation, and an extensive cervical syrinx extending from C2 to C7. A diagnosis of neuropathic (Charcot) arthropathy of the shoulder secondary to Chiari malformation with syringomyelia was established. Additional imaging showed obliteration of the first carpometacarpal (CMC) joint with subchondral sclerosis, cystic changes, and volar subluxation of the first metacarpal, as well as early degenerative changes at the ipsilateral elbow. The patient was managed conservatively with analgesics, protective measures, and multidisciplinary follow-up. Charcot arthropathy of the shoulder is an uncommon but important complication of syringomyelia associated with Chiari malformation type I. This case highlights the importance of early recognition of neuropathic arthropathy in patients with neurological disease. The combined involvement of the shoulder, wrist, and first CMC joint represents an unusual pattern of upper-limb neuropathic arthropathy and contributes to the existing literature on multi-joint involvement.
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Introduction
Charcot shoulder is a neuropathic shoulder arthropathy. It is a pathological process (peripheral or central) leading to destruction of the joint. It is frequently diagnosed late, resulting in extensive bone and joint destruction. It most commonly affects the weight-bearing joints but may affect upper extremities in some cases [ 1 , 2 ]. The rare cases of upper joint extremities, such as shoulders, are associated with conditions related to the central nervous system, such as syringomyelia [ 1 , 3 ]. In contrast to Charcot arthropathy of the foot and ankle, which is commonly associated with diabetes mellitus, neuropathic arthropathy of the shoulder is more frequently linked to central neurological pathology, making neurological evaluation an important component of diagnosis and management [ 4 , 5 ] . Even more uncommonly, the distal joints of the ipsilateral limb, such as the wrist and the first carpometacarpal (CMC) joint, may be involved [ 6 ]. The association of syringomyelia with Chiari malformation type I leads to progressive cavitation of the spinal cord, resulting in dissociated sensory loss, proprioceptive impairment, and muscle atrophy [ 4 ]. The loss of nociceptive and thermal sensation predisposes affected joints to repetitive microtrauma, ultimately culminating in severe joint destruction [ 3 , 7 , 8 ]. Charcot shoulder is therefore an uncommon but well-recognized complication of long-standing syringomyelia and often presents with joint swelling, deformity, and profound functional limitation despite minimal pain [ 1 , 3 ]. This relative lack of pain despite severe radiological destruction is an important clinical clue and may contribute to delayed diagnosis. The diagnosis of Charcot shoulder is challenging due to its rarity and its ability to mimic other conditions, such as septic arthritis, inflammatory arthropathy, rotator cuff arthropathy, or neoplastic processes [ 2 ]. Radiographic and magnetic resonance imaging (MRI) findings typically reveal joint effusion, osseous fragmentation, articular surface destruction, and periarticular soft tissue changes [ 9 ]. Early recognition is essential to avoid unnecessary interventions and to guide appropriate management. Management of neuropathic shoulder arthropathy remains controversial, with treatment strategies ranging from conservative measures to surgical intervention in selected cases [ 10 ]. However, surgical outcomes are often unpredictable due to ongoing neurological impairment and a high risk of prosthetic failure. Surgical outcomes are also unpredictable because persistent neurological impairment, poor bone stock, instability, and loss of protective sensation may predispose the joint to recurrent destruction, prosthetic loosening, and implant failure [ 9 ]. Consequently, individualized, multidisciplinary management is frequently recommended. This includes orthopedic input for surgical decision-making and complication management, neurological evaluation to assess the extent and progression of neuromuscular involvement, structured physiotherapy to improve range of motion and strength, and comprehensive rehabilitation programs to enhance functional independence. In some cases, additional input from pain specialists and occupational therapists may further optimize patient-centered outcomes [ 11 ].
This case report describes a rare presentation of Charcot arthropathy of the shoulder secondary to Chiari malformation type I with syringomyelia, accompanied by ipsilateral wrist deformity and first CMC joint involvement, which is an extremely uncommon presentation. The report highlights the clinical presentation, radiological features, diagnostic challenges, and management considerations, aiming to contribute to the limited literature on this uncommon condition. This case is clinically important because delayed recognition of neuropathic arthropathy may lead to unnecessary investigations or interventions, while early diagnosis can guide appropriate imaging, neurological assessment, joint protection, and multidisciplinary management.
Case presentation
A 54-year-old female presented with a three-month history of left shoulder swelling and severe restriction of range of motion, associated with ipsilateral left-hand deformity. There was no history of significant trauma preceding the onset of symptoms. The patient reported functional limitation rather than pain as the primary concern. The patient was a known case of Chiari malformation type I with syringomyelia, diagnosed previously and managed conservatively. No acute neurological deterioration was reported at the time of presentation. The clinical course, investigations, diagnosis, and management are summarized in Table 1 .
Table 1 Patient timeline. Time point Event/Finding Previous history Known Chiari malformation type I with syringomyelia, managed conservatively 3 months before presentation Onset of left shoulder swelling, deformity, and restricted movement At presentation Minimal pain, marked shoulder effusion, severe restriction of active range of motion, and reduced sensation Initial investigations Laboratory investigations showed mildly elevated ESR, CRP 3.4 mg/L, anemia, and normal leukocyte and platelet counts Radiographs and MRI showed destructive shoulder changes, ipsilateral wrist/first CMC involvement, and cervical syrinx Diagnosis Charcot arthropathy of the left shoulder secondary to Chiari malformation with syringomyelia Management and follow-up Conservative treatment, protective measures, multidisciplinary follow-up; stable status with reduced pain
Patient timeline.
Clinical examination
Upon examination, the left shoulder showed marked joint effusion. The joint was not painful on palpation. Active range of motion was severely restricted, with forward elevation of less than 10°, external rotation of 0°, internal rotation of 0°, and abduction of 0°. Passive range of motion showed partial preservation, with forward elevation up to 110°, while external and internal rotation remained absent. A formal visual analog scale pain score was not available retrospectively.
Muscle power testing revealed deltoid strength of 4/5. Sensory examination of the left upper limb demonstrated diminished sensation and temperature compared to the contralateral side. Formal dermatome-based sensory mapping was not available retrospectively.
Examination of the ipsilateral elbow showed no obvious deformity. Examination of the left wrist revealed ulnar deviation with first CMC joint effusion, tender to palpation with restricted range of motion, and decreased temperature sensation compared to the contralateral side.
Laboratory evaluation demonstrated a mildly elevated erythrocyte sedimentation rate (ESR), with a normal C-reactive protein (CRP) level. The ESR was 32 mm/hr, and the CRP was 3.4 mg/L. Complete blood count revealed anaemia, with hemoglobin of 10.0 g/dL, hematocrit of 31.4%, and red blood cell count of 3.71 × 10⁶/µL, while total leukocyte and platelet counts were within normal limits. Reticulocyte parameters obtained during the initial assessment were also within normal limits. Routine electrolyte and renal function parameters were unremarkable. The relevant laboratory findings are summarized (Table 2 ).
Table 2 Laboratory findings demonstrated a mildly elevated ESR with a normal CRP level, anemia reflected by low hemoglobin, hematocrit, and red blood cell count, and normal reticulocyte parameters. Total leukocyte and platelet counts were within normal limits. Time point Laboratory parameter Patient value Reference range Interpretation At presentation Erythrocyte sedimentation rate (ESR) 32 mm/hr 0-20 mm/hr Mildly elevated At presentation C-reactive protein (CRP) 3.4 mg/L 0.0-5.0 mg/L Within normal range At presentation Hemoglobin 10.0 g/dL 11.7-16.0 g/dL Low At presentation Hematocrit 31.40% 35-47% Low At presentation Red blood cell count 3.71 × 10⁶/µL 3.8-5.2 × 10⁶/µL Low Initial assessment Reticulocyte count 46.10 × 10⁹/L 25.0-75.0 × 10⁹/L Within normal range Initial assessment Reticulocyte percentage 1.20% 0.5-1.6% Within normal range Initial assessment Reticulocyte hemoglobin equivalent 32.4 pg 29.8-37.7 pg Within normal range At presentation Total leukocyte count Within normal limits 4.0-11.0 × 10⁹/L Normal At presentation Platelet count Within normal limits 150-400 × 10⁹/L Normal
Laboratory findings demonstrated a mildly elevated ESR with a normal CRP level, anemia reflected by low hemoglobin, hematocrit, and red blood cell count, and normal reticulocyte parameters.
Total leukocyte and platelet counts were within normal limits.
Radiological assessment
Plain radiographs of the left shoulder showed severe joint destruction, deformity, and multiple loose bodies inferior to the glenoid (Figure 1 ). Distal joint involvement was also evident, with obliteration of the first CMC joint, subchondral sclerosis, cystic changes, and volar subluxation of the first metacarpal (Figure 2 ). Early osteophytic changes were additionally noted at the ipsilateral radial head (Figure 3 ).
External rotation radiograph of the left shoulder demonstrating advanced destructive changes of the glenohumeral joint, including humeral head deformity, irregularity of the glenoid articular surface, joint space disruption, and multiple intra-articular loose bodies, consistent with Charcot neuropathic arthropathy.
Oblique radiograph of the left wrist demonstrating advanced neuropathic arthropathic changes, including joint space obliteration, subchondral sclerosis, cystic changes, bony fragmentation, carpal disorganization, and volar subluxation of the first metacarpal, consistent with ipsilateral wrist and first carpometacarpal joint involvement secondary to syringomyelia.
The abnormalities are indicated by white arrows.
Lateral radiograph of the left elbow demonstrating early degenerative and neuropathic changes, including radial head osteophyte formation and mild articular surface irregularity, suggestive of early ipsilateral joint involvement.
MRI of the left shoulder demonstrated extensive joint effusion involving the glenohumeral, subacromial, and subdeltoid spaces, along with marked rotator cuff muscle atrophy with relative preservation of the deltoid muscle (Figures 4B - 4C ). Humeral head flattening with associated glenoid erosions was also present.
Magnetic resonance imaging findings.
(A) Sagittal cervical spine MRI demonstrating an extensive syrinx extending from C2 to C7 in the setting of Chiari I malformation. (B) Coronal oblique shoulder MRI showing humeral head deformity, glenoid erosion, and marked glenohumeral joint effusion. (C) Axial shoulder MRI demonstrating extensive joint and periarticular fluid with rotator cuff muscle atrophy and relative preservation of the deltoid, consistent with neuropathic arthropathy.
Cervical spine MRI demonstrated signs of syringomyelia with an extensive syrinx extending from C2 to C7 (Figure 4A ).
Diagnosis
Based on the clinical presentation, neurological history, and radiological findings, a diagnosis of neuropathic arthropathy (Charcot joint) of the left shoulder secondary to Chiari malformation type I with syringomyelia was established, with early involvement of the ipsilateral wrist and first CMC joint.
Management
The patient was managed conservatively. She was prescribed etoricoxib 90 mg once daily for 10 days for symptomatic relief and advised to continue protective and supportive measures for the affected limb. Given the complexity of the condition, a referral was made for multidisciplinary evaluation involving orthopedic, neurological, and physiotherapy teams to guide further management. The patient was followed up on every three months. At the most recent follow-up, the clinical status remained stable with reduced pain.
Discussion
Neuropathic arthropathy, also known as Charcot joint, is a chronic, progressive degenerative condition resulting from impaired sensory innervation, leading to progressive joint destruction. Although most commonly associated with diabetes and affecting weight-bearing joints, involvement of the upper extremity is uncommon and is most frequently linked to syringomyelia [ 1 , 2 ]. A summary of previously reported cases of syringomyelia-associated upper-limb neuropathic arthropathy is provided (Table 3 ). Syringomyelia is characterized by cavitation of the spinal cord, typically involving the cervical region, and is commonly associated with Chiari malformation type I. Disruption of the decussating fibres of the lateral spinothalamic tract results in loss of pain and temperature sensation while relatively preserving proprioception [ 10 ]. This sensory dissociation predisposes affected joints to repetitive microtrauma, leading to progressive structural joint damage characteristic of neuropathic arthropathy [ 3 ]. Unlike diabetic Charcot arthropathy, which classically affects the foot and ankle, syringomyelia-related neuropathic arthropathy of the upper limb should prompt careful neurological evaluation, as the musculoskeletal presentation may be the first indication of an underlying spinal cord pathology [ 5 - 7 ].
Table 3 Summary of previously reported cases of syringomyelia-associated upper limb neuropathic arthropathy. Author/year Underlying pathology Joint involvement Management Clinical outcome/relevance Kumar et al., 2011 [ 8 ] Chiari I malformation with syringomyelia Shoulder Radiological diagnosis, followed by conservative/supportive management and neurological evaluation Highlighted the role of MRI in demonstrating both destructive shoulder arthropathy and the underlying cervical syrinx Grahovac et al., 2011 [ 10 ] Chiari I malformation with syringomyelia Shoulder Conservative management with long-term clinical follow-up Reported Charcot shoulder caused by Chiari I malformation with syringomyelia and emphasized the chronic progressive nature of the condition Butala et al., 2014 [ 6 ] Cervical syringomyelia Ipsilateral shoulder and thumb carpometacarpal joint Conservative/supportive management Particularly relevant to the present case because it described combined ipsilateral shoulder and thumb CMC joint neuropathic arthropathy Nambiar et al., 2018 [ 3 ] Syringomyelia Shoulder Conservative management with neurological assessment Reinforced syringomyelia as an important underlying cause of neuropathic shoulder arthropathy Mahmoud et al., 2022 [ 1 ] Chiari malformation with syringomyelia Shoulder Conservative/supportive treatment with multidisciplinary neurological and orthopedic follow-up; surgical intervention considered only in selected cases Systematic literature review emphasizing delayed diagnosis and the importance of considering Chiari malformation with syringomyelia in destructive shoulder arthropathy Shi et al., 2023 [ 11 ] Cervical spondylotic myelopathy with syringomyelia Multiple joints Multidisciplinary management Demonstrated that multi-joint Charcot arthropathy may occur in association with spinal cord pathology and syringomyelia Arabzadeh et al., 2025 [ 2 ] Arnold-Chiari malformation with syringomyelia Shoulder Clinical and radiological assessment followed by case-based management; conservative treatment emphasized Recent case report supporting the association between Arnold-Chiari malformation, syringomyelia, and Charcot arthropathy
Summary of previously reported cases of syringomyelia-associated upper limb neuropathic arthropathy.
Clinically, patients typically present with painless swelling, progressive deformity, and severe functional limitation despite advanced joint destruction. Reduced range of motion and swelling are the most commonly reported presenting symptoms, while pain may be absent in a substantial proportion of cases [ 1 ]. This relative lack of pain often leads to delayed diagnosis and misdiagnosis as septic arthritis, inflammatory arthropathy, or neoplasm [ 2 ]. The discrepancy between the severity of radiological destruction and the relative absence of pain is an important diagnostic clue and should raise suspicion for neuropathic arthropathy, particularly in patients with known or suspected syringomyelia.
The shoulder and elbow are the most frequently affected joints in syringomyelia-related neuropathic arthropathy [ 6 ]. In contrast, distal joint involvement, such as the wrist and first carpometacarpal joint, is rarely described, making the present case particularly unusual and unique. Multi-joint involvement within the same limb has been reported but remains uncommon [ 12 ].
Additionally, very few reports describe involvement of the first carpometacarpal joint in association with Charcot shoulder. Previous case reports have described ipsilateral shoulder and thumb carpometacarpal joint neuropathic arthropathy, highlighting the exceptional rarity of this distribution pattern [ 7 ].
Radiographically, neuropathic arthropathy is characterized by joint destruction, bone resorption, fragmentation, and subluxation or dislocation. MRI plays a critical role in identifying both joint destruction and underlying neurological pathology, particularly spinal cord syrinx formation [ 9 , 13 , 14 ]. Therefore, when destructive shoulder arthropathy is identified without a clear traumatic, infectious, or inflammatory cause, MRI evaluation of the cervical spine should be considered to exclude syringomyelia or Chiari malformation-associated pathology [ 6 , 9 , 11 , 14 ].
The pathogenesis of neuropathic arthropathy remains multifactorial. Two primary mechanisms have been proposed: the neurotraumatic theory, which suggests repeated unrecognized trauma leads to joint destruction, and the neurovascular theory, which proposes autonomic dysfunction leading to hyperaemia and osteoclastic bone resorption [ 6 , 15 , 16 ].
Management remains challenging and controversial. Conservative treatment, including joint protection, immobilization, analgesia, and physiotherapy, is typically first-line. Surgical treatment may be considered in advanced cases but carries increased risk of failure due to persistent neurological impairment and poor bone quality [ 10 , 17 ]. Although shoulder arthroplasty has been described in selected patients with Charcot arthropathy, outcomes remain different, and careful patient selection is essential because instability, loosening, and prosthetic failure remain important concerns [ 10 , 15 ]. For this reason, treatment should be individualized according to pain severity, functional limitation, neurological status, bone stock, and patient expectations.
This case highlights the importance of considering neuropathic arthropathy in patients with known Chiari malformation and syringomyelia who present with progressive joint deformity, particularly when pain is minimal despite marked structural destruction. The associated involvement of the ipsilateral wrist and first carpometacarpal joint makes this presentation unusual and adds to the limited literature on multi-joint neuropathic arthropathy of the upper limb. Recognition of this pattern is clinically relevant because it may prompt appropriate neurological imaging, avoid misdiagnosis, and support early multidisciplinary management.
Conclusions
Charcot arthropathy of the shoulder is an uncommon complication of syringomyelia associated with Chiari malformation type I. This diagnosis should be considered in patients presenting with minimally painful destructive shoulder arthropathy, sensory impairment, and progressive upper-limb deformity. The present case demonstrates an unusual pattern of ipsilateral shoulder, wrist, and first CMC joint involvement. Early recognition and appropriate imaging are important to guide management and limit further joint damage where possible.
Disclosures
Human subjects: Informed consent for treatment and open access publication was obtained or waived by all participants in this study. Research Ethics Committee - Tarmeem Orthopedic and Spine Specialty Hospital issued approval TRM-RC-2026-003. The Research Ethics Committee/Institutional Review Board (REC/IRB) has reviewed the Proposal Reference Number: TRM-RSCH-P03 with the assessment forms, as well as the Informed Consent Form, in accordance with institutional policies, ICH-Good Clinical Practice (GCP) guidelines, and applicable Department of Health (DOH) regulations. This study was approved on 01/02/2026, subject to continued compliance with the approved protocol and prior REC approval for any substantial amendments.
Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following:
Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work.
Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work.
Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.
Author Contributions
Acquisition, analysis, or interpretation of data: Aisha Wasi, Radjah Farhi, Ahmed Fouad Ezzeldein Abdalrahman
Drafting of the manuscript: Aisha Wasi
Critical review of the manuscript for important intellectual content: Radjah Farhi, Ali Alsuwaidi, Ahmed Fouad Ezzeldein Abdalrahman , Olivier Verborgt
Supervision: Radjah Farhi, Ali Alsuwaidi, Ahmed Fouad Ezzeldein Abdalrahman , Olivier Verborgt
Concept and design: Ali Alsuwaidi, Ahmed Fouad Ezzeldein Abdalrahman , Olivier Verborgt
References
Charcot shoulder is a neuropathic shoulder arthropathy. It is a pathological process (peripheral or central) leading to destruction of the joint. It is frequently diagnosed late, resulting in extensive bone and joint destruction. It most commonly affects the weight-bearing joints but may affect upper extremities in some cases [ 1 , 2 ]. The rare cases of upper joint extremities, such as shoulders, are associated with conditions related to the central nervous system, such as syringomyelia [ 1 , 3 ]. In contrast to Charcot arthropathy of the foot and ankle, which is commonly associated with diabetes mellitus, neuropathic arthropathy of the shoulder is more frequently linked to central neurological pathology, making neurological evaluation an important component of diagnosis and management [ 4 , 5 ] . Even more uncommonly, the distal joints of the ipsilateral limb, such as the wrist and the first carpometacarpal (CMC) joint, may be involved [ 6 ]. The association of syringomyelia with Chiari malformation type I leads to progressive cavitation of the spinal cord, resulting in dissociated sensory loss, proprioceptive impairment, and muscle atrophy [ 4 ]. The loss of nociceptive and thermal sensation predisposes affected joints to repetitive microtrauma, ultimately culminating in severe joint destruction [ 3 , 7 , 8 ]. Charcot shoulder is therefore an uncommon but well-recognized complication of long-standing syringomyelia and often presents with joint swelling, deformity, and profound functional limitation despite minimal pain [ 1 , 3 ]. This relative lack of pain despite severe radiological destruction is an important clinical clue and may contribute to delayed diagnosis. The diagnosis of Charcot shoulder is challenging due to its rarity and its ability to mimic other conditions, such as septic arthritis, inflammatory arthropathy, rotator cuff arthropathy, or neoplastic processes [ 2 ]. Radiographic and magnetic resonance imaging (MRI) findings typically reveal joint effusion, osseous fragmentation, articular surface destruction, and periarticular soft tissue changes [ 9 ]. Early recognition is essential to avoid unnecessary interventions and to guide appropriate management. Management of neuropathic shoulder arthropathy remains controversial, with treatment strategies ranging from conservative measures to surgical intervention in selected cases [ 10 ]. However, surgical outcomes are often unpredictable due to ongoing neurological impairment and a high risk of prosthetic failure. Surgical outcomes are also unpredictable because persistent neurological impairment, poor bone stock, instability, and loss of protective sensation may predispose the joint to recurrent destruction, prosthetic loosening, and implant failure [ 9 ]. Consequently, individualized, multidisciplinary management is frequently recommended. This includes orthopedic input for surgical decision-making and complication management, neurological evaluation to assess the extent and progression of neuromuscular involvement, structured physiotherapy to improve range of motion and strength, and comprehensive rehabilitation programs to enhance functional independence. In some cases, additional input from pain specialists and occupational therapists may further optimize patient-centered outcomes [ 11 ].
This case report describes a rare presentation of Charcot arthropathy of the shoulder secondary to Chiari malformation type I with syringomyelia, accompanied by ipsilateral wrist deformity and first CMC joint involvement, which is an extremely uncommon presentation. The report highlights the clinical presentation, radiological features, diagnostic challenges, and management considerations, aiming to contribute to the limited literature on this uncommon condition. This case is clinically important because delayed recognition of neuropathic arthropathy may lead to unnecessary investigations or interventions, while early diagnosis can guide appropriate imaging, neurological assessment, joint protection, and multidisciplinary management.
Case presentation
A 54-year-old female presented with a three-month history of left shoulder swelling and severe restriction of range of motion, associated with ipsilateral left-hand deformity. There was no history of significant trauma preceding the onset of symptoms. The patient reported functional limitation rather than pain as the primary concern. The patient was a known case of Chiari malformation type I with syringomyelia, diagnosed previously and managed conservatively. No acute neurological deterioration was reported at the time of presentation. The clinical course, investigations, diagnosis, and management are summarized in Table 1 .
Table 1 Patient timeline. Time point Event/Finding Previous history Known Chiari malformation type I with syringomyelia, managed conservatively 3 months before presentation Onset of left shoulder swelling, deformity, and restricted movement At presentation Minimal pain, marked shoulder effusion, severe restriction of active range of motion, and reduced sensation Initial investigations Laboratory investigations showed mildly elevated ESR, CRP 3.4 mg/L, anemia, and normal leukocyte and platelet counts Radiographs and MRI showed destructive shoulder changes, ipsilateral wrist/first CMC involvement, and cervical syrinx Diagnosis Charcot arthropathy of the left shoulder secondary to Chiari malformation with syringomyelia Management and follow-up Conservative treatment, protective measures, multidisciplinary follow-up; stable status with reduced pain
Patient timeline.
Clinical examination
Upon examination, the left shoulder showed marked joint effusion. The joint was not painful on palpation. Active range of motion was severely restricted, with forward elevation of less than 10°, external rotation of 0°, internal rotation of 0°, and abduction of 0°. Passive range of motion showed partial preservation, with forward elevation up to 110°, while external and internal rotation remained absent. A formal visual analog scale pain score was not available retrospectively.
Muscle power testing revealed deltoid strength of 4/5. Sensory examination of the left upper limb demonstrated diminished sensation and temperature compared to the contralateral side. Formal dermatome-based sensory mapping was not available retrospectively.
Examination of the ipsilateral elbow showed no obvious deformity. Examination of the left wrist revealed ulnar deviation with first CMC joint effusion, tender to palpation with restricted range of motion, and decreased temperature sensation compared to the contralateral side.
Laboratory evaluation demonstrated a mildly elevated erythrocyte sedimentation rate (ESR), with a normal C-reactive protein (CRP) level. The ESR was 32 mm/hr, and the CRP was 3.4 mg/L. Complete blood count revealed anaemia, with hemoglobin of 10.0 g/dL, hematocrit of 31.4%, and red blood cell count of 3.71 × 10⁶/µL, while total leukocyte and platelet counts were within normal limits. Reticulocyte parameters obtained during the initial assessment were also within normal limits. Routine electrolyte and renal function parameters were unremarkable. The relevant laboratory findings are summarized (Table 2 ).
Table 2 Laboratory findings demonstrated a mildly elevated ESR with a normal CRP level, anemia reflected by low hemoglobin, hematocrit, and red blood cell count, and normal reticulocyte parameters. Total leukocyte and platelet counts were within normal limits. Time point Laboratory parameter Patient value Reference range Interpretation At presentation Erythrocyte sedimentation rate (ESR) 32 mm/hr 0-20 mm/hr Mildly elevated At presentation C-reactive protein (CRP) 3.4 mg/L 0.0-5.0 mg/L Within normal range At presentation Hemoglobin 10.0 g/dL 11.7-16.0 g/dL Low At presentation Hematocrit 31.40% 35-47% Low At presentation Red blood cell count 3.71 × 10⁶/µL 3.8-5.2 × 10⁶/µL Low Initial assessment Reticulocyte count 46.10 × 10⁹/L 25.0-75.0 × 10⁹/L Within normal range Initial assessment Reticulocyte percentage 1.20% 0.5-1.6% Within normal range Initial assessment Reticulocyte hemoglobin equivalent 32.4 pg 29.8-37.7 pg Within normal range At presentation Total leukocyte count Within normal limits 4.0-11.0 × 10⁹/L Normal At presentation Platelet count Within normal limits 150-400 × 10⁹/L Normal
Laboratory findings demonstrated a mildly elevated ESR with a normal CRP level, anemia reflected by low hemoglobin, hematocrit, and red blood cell count, and normal reticulocyte parameters.
Total leukocyte and platelet counts were within normal limits.
Radiological assessment
Plain radiographs of the left shoulder showed severe joint destruction, deformity, and multiple loose bodies inferior to the glenoid (Figure 1 ). Distal joint involvement was also evident, with obliteration of the first CMC joint, subchondral sclerosis, cystic changes, and volar subluxation of the first metacarpal (Figure 2 ). Early osteophytic changes were additionally noted at the ipsilateral radial head (Figure 3 ).
External rotation radiograph of the left shoulder demonstrating advanced destructive changes of the glenohumeral joint, including humeral head deformity, irregularity of the glenoid articular surface, joint space disruption, and multiple intra-articular loose bodies, consistent with Charcot neuropathic arthropathy.
Oblique radiograph of the left wrist demonstrating advanced neuropathic arthropathic changes, including joint space obliteration, subchondral sclerosis, cystic changes, bony fragmentation, carpal disorganization, and volar subluxation of the first metacarpal, consistent with ipsilateral wrist and first carpometacarpal joint involvement secondary to syringomyelia.
The abnormalities are indicated by white arrows.
Lateral radiograph of the left elbow demonstrating early degenerative and neuropathic changes, including radial head osteophyte formation and mild articular surface irregularity, suggestive of early ipsilateral joint involvement.
MRI of the left shoulder demonstrated extensive joint effusion involving the glenohumeral, subacromial, and subdeltoid spaces, along with marked rotator cuff muscle atrophy with relative preservation of the deltoid muscle (Figures 4B - 4C ). Humeral head flattening with associated glenoid erosions was also present.
Magnetic resonance imaging findings.
(A) Sagittal cervical spine MRI demonstrating an extensive syrinx extending from C2 to C7 in the setting of Chiari I malformation. (B) Coronal oblique shoulder MRI showing humeral head deformity, glenoid erosion, and marked glenohumeral joint effusion. (C) Axial shoulder MRI demonstrating extensive joint and periarticular fluid with rotator cuff muscle atrophy and relative preservation of the deltoid, consistent with neuropathic arthropathy.
Cervical spine MRI demonstrated signs of syringomyelia with an extensive syrinx extending from C2 to C7 (Figure 4A ).
Diagnosis
Based on the clinical presentation, neurological history, and radiological findings, a diagnosis of neuropathic arthropathy (Charcot joint) of the left shoulder secondary to Chiari malformation type I with syringomyelia was established, with early involvement of the ipsilateral wrist and first CMC joint.
Management
The patient was managed conservatively. She was prescribed etoricoxib 90 mg once daily for 10 days for symptomatic relief and advised to continue protective and supportive measures for the affected limb. Given the complexity of the condition, a referral was made for multidisciplinary evaluation involving orthopedic, neurological, and physiotherapy teams to guide further management. The patient was followed up on every three months. At the most recent follow-up, the clinical status remained stable with reduced pain.
Discussion
Neuropathic arthropathy, also known as Charcot joint, is a chronic, progressive degenerative condition resulting from impaired sensory innervation, leading to progressive joint destruction. Although most commonly associated with diabetes and affecting weight-bearing joints, involvement of the upper extremity is uncommon and is most frequently linked to syringomyelia [ 1 , 2 ]. A summary of previously reported cases of syringomyelia-associated upper-limb neuropathic arthropathy is provided (Table 3 ). Syringomyelia is characterized by cavitation of the spinal cord, typically involving the cervical region, and is commonly associated with Chiari malformation type I. Disruption of the decussating fibres of the lateral spinothalamic tract results in loss of pain and temperature sensation while relatively preserving proprioception [ 10 ]. This sensory dissociation predisposes affected joints to repetitive microtrauma, leading to progressive structural joint damage characteristic of neuropathic arthropathy [ 3 ]. Unlike diabetic Charcot arthropathy, which classically affects the foot and ankle, syringomyelia-related neuropathic arthropathy of the upper limb should prompt careful neurological evaluation, as the musculoskeletal presentation may be the first indication of an underlying spinal cord pathology [ 5 - 7 ].
Table 3 Summary of previously reported cases of syringomyelia-associated upper limb neuropathic arthropathy. Author/year Underlying pathology Joint involvement Management Clinical outcome/relevance Kumar et al., 2011 [ 8 ] Chiari I malformation with syringomyelia Shoulder Radiological diagnosis, followed by conservative/supportive management and neurological evaluation Highlighted the role of MRI in demonstrating both destructive shoulder arthropathy and the underlying cervical syrinx Grahovac et al., 2011 [ 10 ] Chiari I malformation with syringomyelia Shoulder Conservative management with long-term clinical follow-up Reported Charcot shoulder caused by Chiari I malformation with syringomyelia and emphasized the chronic progressive nature of the condition Butala et al., 2014 [ 6 ] Cervical syringomyelia Ipsilateral shoulder and thumb carpometacarpal joint Conservative/supportive management Particularly relevant to the present case because it described combined ipsilateral shoulder and thumb CMC joint neuropathic arthropathy Nambiar et al., 2018 [ 3 ] Syringomyelia Shoulder Conservative management with neurological assessment Reinforced syringomyelia as an important underlying cause of neuropathic shoulder arthropathy Mahmoud et al., 2022 [ 1 ] Chiari malformation with syringomyelia Shoulder Conservative/supportive treatment with multidisciplinary neurological and orthopedic follow-up; surgical intervention considered only in selected cases Systematic literature review emphasizing delayed diagnosis and the importance of considering Chiari malformation with syringomyelia in destructive shoulder arthropathy Shi et al., 2023 [ 11 ] Cervical spondylotic myelopathy with syringomyelia Multiple joints Multidisciplinary management Demonstrated that multi-joint Charcot arthropathy may occur in association with spinal cord pathology and syringomyelia Arabzadeh et al., 2025 [ 2 ] Arnold-Chiari malformation with syringomyelia Shoulder Clinical and radiological assessment followed by case-based management; conservative treatment emphasized Recent case report supporting the association between Arnold-Chiari malformation, syringomyelia, and Charcot arthropathy
Summary of previously reported cases of syringomyelia-associated upper limb neuropathic arthropathy.
Clinically, patients typically present with painless swelling, progressive deformity, and severe functional limitation despite advanced joint destruction. Reduced range of motion and swelling are the most commonly reported presenting symptoms, while pain may be absent in a substantial proportion of cases [ 1 ]. This relative lack of pain often leads to delayed diagnosis and misdiagnosis as septic arthritis, inflammatory arthropathy, or neoplasm [ 2 ]. The discrepancy between the severity of radiological destruction and the relative absence of pain is an important diagnostic clue and should raise suspicion for neuropathic arthropathy, particularly in patients with known or suspected syringomyelia.
The shoulder and elbow are the most frequently affected joints in syringomyelia-related neuropathic arthropathy [ 6 ]. In contrast, distal joint involvement, such as the wrist and first carpometacarpal joint, is rarely described, making the present case particularly unusual and unique. Multi-joint involvement within the same limb has been reported but remains uncommon [ 12 ].
Additionally, very few reports describe involvement of the first carpometacarpal joint in association with Charcot shoulder. Previous case reports have described ipsilateral shoulder and thumb carpometacarpal joint neuropathic arthropathy, highlighting the exceptional rarity of this distribution pattern [ 7 ].
Radiographically, neuropathic arthropathy is characterized by joint destruction, bone resorption, fragmentation, and subluxation or dislocation. MRI plays a critical role in identifying both joint destruction and underlying neurological pathology, particularly spinal cord syrinx formation [ 9 , 13 , 14 ]. Therefore, when destructive shoulder arthropathy is identified without a clear traumatic, infectious, or inflammatory cause, MRI evaluation of the cervical spine should be considered to exclude syringomyelia or Chiari malformation-associated pathology [ 6 , 9 , 11 , 14 ].
The pathogenesis of neuropathic arthropathy remains multifactorial. Two primary mechanisms have been proposed: the neurotraumatic theory, which suggests repeated unrecognized trauma leads to joint destruction, and the neurovascular theory, which proposes autonomic dysfunction leading to hyperaemia and osteoclastic bone resorption [ 6 , 15 , 16 ].
Management remains challenging and controversial. Conservative treatment, including joint protection, immobilization, analgesia, and physiotherapy, is typically first-line. Surgical treatment may be considered in advanced cases but carries increased risk of failure due to persistent neurological impairment and poor bone quality [ 10 , 17 ]. Although shoulder arthroplasty has been described in selected patients with Charcot arthropathy, outcomes remain different, and careful patient selection is essential because instability, loosening, and prosthetic failure remain important concerns [ 10 , 15 ]. For this reason, treatment should be individualized according to pain severity, functional limitation, neurological status, bone stock, and patient expectations.
This case highlights the importance of considering neuropathic arthropathy in patients with known Chiari malformation and syringomyelia who present with progressive joint deformity, particularly when pain is minimal despite marked structural destruction. The associated involvement of the ipsilateral wrist and first carpometacarpal joint makes this presentation unusual and adds to the limited literature on multi-joint neuropathic arthropathy of the upper limb. Recognition of this pattern is clinically relevant because it may prompt appropriate neurological imaging, avoid misdiagnosis, and support early multidisciplinary management.
Conclusions
Charcot arthropathy of the shoulder is an uncommon complication of syringomyelia associated with Chiari malformation type I. This diagnosis should be considered in patients presenting with minimally painful destructive shoulder arthropathy, sensory impairment, and progressive upper-limb deformity. The present case demonstrates an unusual pattern of ipsilateral shoulder, wrist, and first CMC joint involvement. Early recognition and appropriate imaging are important to guide management and limit further joint damage where possible.
Disclosures
Human subjects: Informed consent for treatment and open access publication was obtained or waived by all participants in this study. Research Ethics Committee - Tarmeem Orthopedic and Spine Specialty Hospital issued approval TRM-RC-2026-003. The Research Ethics Committee/Institutional Review Board (REC/IRB) has reviewed the Proposal Reference Number: TRM-RSCH-P03 with the assessment forms, as well as the Informed Consent Form, in accordance with institutional policies, ICH-Good Clinical Practice (GCP) guidelines, and applicable Department of Health (DOH) regulations. This study was approved on 01/02/2026, subject to continued compliance with the approved protocol and prior REC approval for any substantial amendments.
Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following:
Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work.
Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work.
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Author Contributions
Acquisition, analysis, or interpretation of data: Aisha Wasi, Radjah Farhi, Ahmed Fouad Ezzeldein Abdalrahman
Drafting of the manuscript: Aisha Wasi
Critical review of the manuscript for important intellectual content: Radjah Farhi, Ali Alsuwaidi, Ahmed Fouad Ezzeldein Abdalrahman , Olivier Verborgt
Supervision: Radjah Farhi, Ali Alsuwaidi, Ahmed Fouad Ezzeldein Abdalrahman , Olivier Verborgt
Concept and design: Ali Alsuwaidi, Ahmed Fouad Ezzeldein Abdalrahman , Olivier Verborgt
References