Re: 척수 공동증 정형외과, 신경외과적 문제들 탐구!!

[문형철]

Syringomyelia (sih-ring-go-my-E-lee-uh) is the development of a fluid-filled cyst within the spinal cord. The cyst, which is sometimes called a syrinx, can grow larger over time. When it does, it can damage the spinal cord and cause pain, weakness and stiffness.

Syringomyelia has several possible causes. Many cases are associated with a Chiari malformation. This is a condition in which brain tissue pushes into the spinal canal.

Other causes of syringomyelia include spinal cord tumors, spinal cord injuries and damage caused by swelling around the spinal cord.

If syringomyelia doesn't cause problems, monitoring the condition might be all that's necessary. But if the symptoms are bothersome, surgery might be needed.

Products & Services

• A Book: Mayo Clinic Family Health Book

Show more products from Mayo Clinic

Symptoms

Syringomyelia symptoms usually develop slowly over time. If syringomyelia is caused by brain tissue pushing into the spinal canal, it is called a Chiari malformation. Symptoms generally begin between ages 25 and 40.

In some cases, coughing or straining can trigger symptoms of syringomyelia, although neither causes syringomyelia.

Syringomyelia might affect the back, shoulders, arms or legs. Symptoms can include:

• Muscle weakness and muscle wasting.
• Loss of reflexes.
• Loss of sensitivity to pain and temperature.
• Headaches.
• Stiffness in the back, shoulders, arms and legs.
• Pain in the neck, arms and back.
• Scoliosis. This is when the spine curves sideways.

When to see a doctor

If you have any of the symptoms associated with syringomyelia, see your healthcare professional.

If you've had a spinal cord injury, watch for symptoms of syringomyelia. It may take months to years after an injury before syringomyelia develops. Make sure your healthcare professional knows you had a spinal cord injury.

Causes

It's not clear how and why syringomyelia happens. When it develops, the fluid that surrounds, cushions and protects the brain and spinal cord collects within the spinal cord itself. This fluid is called cerebrospinal fluid. If it collects and forms a fluid-filled cyst, it is called a syrinx.

Several conditions and diseases can lead to syringomyelia, including:

• Chiari malformation, a condition in which brain tissue pushes into the spinal canal and blocks the regular flow of cerebrospinal fluid.
• Meningitis, which is swelling of the membranes surrounding the brain and spinal cord.
• Spinal cord tumor, which can interfere with the regular flow of cerebrospinal fluid.
• Conditions present at birth, such as a tethered spinal cord. A tethered spinal cord is a condition caused when tissue attached to the spinal cord limits its movement.
• Spinal cord injury, which can cause symptoms months or years later.

Complications

In some people, syringomyelia can progress and lead to serious complications. Other people have no symptoms.

A syrinx can cause complications if it grows or damages nerves within the spinal cord. Complications include:

• Scoliosis. This is when the spine curves sideways.
• Chronic pain resulting from damage to the spinal cord.
• Motor difficulties that can affect walking. Examples include weakness and stiffness in the leg muscles.
• Paralysis.

척수공동증(syringomyelia)은
척수 안에 액체로 가득 찬 낭종이 생기는 질환입니다.

이 낭종은 때때로 syrinx라고 불리며,
시간이 지나면서 커질 수 있습니다.
커지면 척수를 손상시켜 통증, 약화, 경직을 유발할 수 있습니다.

척수공동증에는
여러 가능한 원인이 있습니다.

많은 경우가
치아리 기형(Chiari malformation)과 관련이 있습니다.
이는 뇌 조직이 척수관으로 밀려 들어가는 상태입니다.

척수공동증의 다른 원인으로는 척수 종양, 척수 손상, 척수 주변의 부종으로 인한 손상이 있습니다.
척수공동증이 문제를 일으키지 않으면 상태를 모니터링하는 것만으로 충분할 수 있습니다.
하지만 증상이 불편하다면 수술이 필요할 수 있습니다.



증상 척수공동증 증상은
보통 시간이 지나면서 천천히 발달합니다.

척수공동증이
뇌 조직이 척수관으로 밀려 들어가는 것으로 인해 발생하면 치아리 기형이라고 합니다.
증상은 일반적으로 25세에서 40세 사이에 시작됩니다.

일부 경우에는
기침이나 힘주는 동작이 척수공동증 증상을 유발할 수 있지만,
이들이 척수공동증의 원인이 되는 것은 아닙니다.

척수공동증은
등, 어깨, 팔 또는 다리에 영향을 미칠 수 있습니다.

증상으로는 다음과 같은 것들이 포함될 수 있습니다:

• 근육 약화와 근육 위축.
• 반사 상실.
• 통증과 온도에 대한 감각 상실.
• 두통.
• 등, 어깨, 팔, 다리의 경직.
• 목, 팔, 등에 통증.
• 척추측만증. 이는 척추가 옆으로 휘는 상태입니다.

척수 손상을 입은 적이 있다면 척수공동증 증상을 주의 깊게 관찰하세요.
손상 후 척수공동증이 발병하는 데는 수개월에서 수년이 걸릴 수 있습니다.
의료 전문가에게 척수 손상을 입은 적이 있음을 알려주세요.


원인 척수공동증이
어떻게 왜 발생하는지는 명확하지 않습니다.

발생하면 뇌와 척수를 둘러싸고 완충하며 보호하는 액체가 척수 자체 안에 모입니다.
이 액체를 뇌척수액이라고 합니다.

이 액체가 모여
액체로 가득 찬 낭종을 형성하면
syrinx라고 합니다.

척수공동증을 유발할 수 있는 여러 상태와 질환으로는 다음과 같은 것들이 있습니다:

• 치아리 기형. 이는 뇌 조직이 척수관으로 밀려 들어가 뇌척수액의 정상적인 흐름을 막는 상태입니다.
• 수막염. 이는 뇌와 척수를 둘러싼 막의 부종입니다.
• 척수 종양. 이는 뇌척수액의 정상적인 흐름을 방해할 수 있습니다.
• 선천적 상태, 예를 들어 척수 고정증(tethered spinal cord). 이는 척수에 붙은 조직이 척수의 움직임을 제한하는 상태입니다.
• 척수 손상. 이는 수개월 또는 수년 후에 증상을 유발할 수 있습니다.

합병증 일부 사람들에게서 척수공동증은 진행되어 심각한 합병증을 초래할 수 있습니다. 다른 사람들은 증상이 없습니다.
syrinx가 커지거나 척수 내 신경을 손상시키면 합병증이 발생할 수 있습니다. 합병증으로는:

• 척추측만증. 이는 척추가 옆으로 휘는 상태입니다.
• 척수 손상으로 인한 만성 통증.
• 보행에 영향을 미치는 운동 장애. 예를 들어 다리 근육의 약화와 경직.
• 마비.

척수공동증(또는 척수구멍증이라고도 불려요)은

척수 안에 액체가 고인 '구멍'이나 '낭종'이 생기는 병.

 정상 척수는

단단하고 빈틈없지만, 이 병이 생기면 척수 한가운데에 물주머니 같은 공동(구멍)이 생김.

이게 왜 생기냐면,

보통 뇌 아래쪽(치아리 기형처럼)이 막히거나 문제가 있어서

뇌척수액(뇌와 척수를 보호하는 물)이 제대로 흐르지 못함.

마치 수도관이 막혀서 물이 새는 것처럼,

압력이 쌓여 척수 안으로 액체가 스며들어 구멍을 만듬.

이 구멍이 커지면 팔·다리 마비나 통증이 생길 수 있음.

간단히 말해: 척수가 '물풍선'처럼 부풀어 오르는 것.

이게 척수공동증(syringomyelia)과 어떻게 연결되냐면,

Chiari 기형 때문에 CSF가 제대로 순환되지 못하고 압력이 쌓여

척수 안에 액체가 고이는 '공동'(syrinx)이 생기기 때문.

연구에 따르면,

Chiari I 기형 환자의 약 65%에서 척수공동증이 발생.

대부분의 척수공동증 사례가 Chiari I 기형과 관련되어 있으며,

이 기형이 후뇌(뇌간과 소뇌)를 압박해 CSF 흐름을 방해하는 게 주요 원인

.

간단히 비유하면,

Chiari 기형은 '교통 체증'처럼 CSF의 길을 막아 척수에 '물웅덩이'(공동)를 만드는 것.

이 공동이 커지면

팔·다리 감각 이상, 통증, 근력 약화 등의 증상이 나타날 수 있음

척수 중앙관(central canal)에서
뇌척수액(CSF)이 차오르는 현상은
주로 척수공동증(syringomyelia)의 병태생리와 관련이 있어요.

이건 CSF의 정상적인 순환과 압력 균형이 깨져서 발생하죠. 

주요 이유: CSF 흐름 장애

• 정상적으로 CSF는 뇌와 척수를 보호하며 순환하지만, 치아리 기형(Chiari malformation)처럼 뇌 조직이 척수관을 압박하거나 막히면 CSF의 흐름이 방해받아요. 이로 인해 CSF가 척수 외부(척수아막하 공간)에서 척수 내부로 스며들어 중앙관을 확장시키고, 결국 공동(syrinx)을 형성합니다.
• 다른 원인으로는 척수 손상, 종양, 염증, 또는 선천적 이상(예: 척수 고정증)이 있어요. 이들은 척수아막하 공간(subarachnoid space)을 막아 CSF 압력 기울기를 만들고, 액체가 척수 조직으로 유입되게 합니다.

병태생리 이론 여러 이론이 있지만, 핵심은 압력 불균형이에요:

• Water hammer theory (수압 망치 이론): 심박동이나 호흡으로 인한 CSF 압력 파동이 중앙관으로 전달되어 액체가 쌓입니다. 마치 망치로 때리는 듯한 효과로 공동이 커져요.
• Piston theory (피스톤 이론): 치아리 기형에서 소뇌 편도가 '피스톤'처럼 움직여 척수 표면에 압력을 가하고, CSF를 척수 내부로 밀어 넣습니다.
• 추가 메커니즘: 섬모(cilia) 손상이나 척수아막하 공간 obstruction으로 CSF가 중앙관에 갇히고, 세포외액(extracellular fluid)이 축적되어 공동이 형성됩니다.

척수공동증(syringomyelia)에서 CSF(뇌척수액)가 척수아막하 공간(subarachnoid space, SAS)에서 척수 내부로 스며들어 중앙관(central canal)을 확장시키고 syrinx(공동)를 형성하는 과정은, 주로 압력파(pulsatile pressure wave)와 혈관주위 공간(perivascular spaces, Virchow-Robin spaces)을 통한 bulk flow(대량 흐름)으로 설명됩니다.

이 과정은 Chiari I형 기형이나 척수 SAS 폐색(외상, 지주막염 등)에서 가장 잘 일어나며, 오래된 “4th ventricle → 중앙관 직접 유입” 이론(Gardner water-hammer)은 대부분의 경우에 맞지 않는 것으로 밝혀졌습니다. 아래에 단계별로 자세히 설명하겠습니다.
1. 정상 CSF 순환 vs. 장애 발생

• 정상: CSF는 뇌실에서 생산 → 지주막하 공간(SAS)을 통해 척수로 내려오며, 심장 박동(수축기)에 따른 압력파는 대공(foramen magnum)에서 자연스럽게 완충(damping)됩니다.
• Chiari I형(또는 SAS 폐색): 소뇌 편도(tonsils)가 대공을 막거나 척수 SAS가 좁아지면 CSF가 아래로 빠져나가지 못함 → 두개-척수 압력 불균형(craniospinal pressure dissociation) 발생.
  • 심장 수축기마다 뇌에서 내려오는 압력파가 척수 SAS에서 과도하게 증폭됩니다. (정상은 1~2배, 환자에서는 3~5배 이상)

2. 압력파가 척수 표면을 때림 (Piston effect)

• Oldfield의 피스톤 이론(1994): 소뇌 편도가 심장 박동에 따라 위아래로 “피스톤”처럼 움직이며 척수 SAS에 강한 압력파를 만듭니다.
• 이 압력파가 척수 표면(pia mater)을 직접 누름 → 척수 내부 압력이 순간적으로 올라가면서 CSF가 “안으로 밀려 들어가게” 됩니다. (비유: 호스로 물을 세게 틀었을 때 호스가 부풀어 터지듯이, 압력이 척수 안으로 유입 통로를 찾음)

3. CSF가 척수 안으로 들어가는 실제 통로: 혈관주위 공간 (Virchow-Robin spaces)

• 가장 중요한 현대 기전 (Heiss 연구 2012~2019, CT-myelography 증거)
  • CSF는 혈관주위 공간(PVS)을 통해 척수 실질(parenchyma)로 들어갑니다.
  • PVS = 척수에 들어가는 작은 동맥·정맥 주위의 자연스러운 틈(지주막하 공간과 연결됨).
  • 정상적으로도 약간의 CSF가 PVS를 통해 척수로 들어왔다 나가지만, 압력파가 강해지면 대량으로(one-way bulk flow) 유입됩니다.
• 증거: SAS에 조영제를 넣은 후 CT를 찍으면, Chiari/외상 후 공동증 환자에서는 조영제가 척수 실질 → syrinx까지 빠르게 들어가는 것이 관찰됩니다. (종양 관련 공동증에서는 거의 들어가지 않음 → 기전이 다름)

4. 중앙관 확장 → Syrinx 형성

• 들어온 CSF가 먼저 중앙관(central canal)으로 모여 hydromyelia(중앙관 확장)을 만듭니다.
• 중앙관이 이미 성인에서 대부분 막혀 있거나 좁아진 경우 → 실질 내에서 액체가 고여 작은 공동을 만듦.
• 압력이 계속 쌓이면:
  • 중앙관 벽이 터지거나
  • 실질이 녹아내리며 (tissue dissection)
  • syrinx(척수 실질 내 비정상 공동)가 형성됩니다.
• Syrinx는 중앙관과 연결될 수도, 독립된 공동일 수도 있습니다. (많은 경우 둘 다 섞여 있음)

5. 일단 syrinx가 생긴 후 확대되는 이유

• 형성된 syrinx도 같은 척수 SAS 압력파에 계속 노출됩니다.
• 압력파가 syrinx 외벽을 누르면 내부 액체가 위아래로 “slush(진흙처럼)” 움직이며 syrinx를 길게·넓게 확장시킵니다.
• 결과: 회백질(감각 신경) → 백질(운동 신경) 순으로 손상 → 망토형 감각 소실, 근력 약화 등 증상

이 논문은 척수공동증(syringomyelia)의 정형외과적 측면을 중점적으로 다루는 리뷰로, 치아리 기형 I형(Chiari Malformation Type I, CM-I)과의 강한 연관성을 강조합니다. 발표를 위해 슬라이드 구조처럼 구성하겠습니다. 각 섹션은 핵심 포인트만 추출하여 10-15분 발표에 적합하게 요약했습니다. 데이터와 이론은 증거 기반으로 제시하며, CM-I와의 연결을 중심으로 설명합니다.

1. 서론/개요 (Abstract/Overview)

• 척수공동증은 척수 내 액체 충만 공동(syrinx)이 형성되는 신경 장애로, 뇌척수액(CSF) 흐름 장애가 주요 원인입니다.
• CM-I와의 연관: CM-I 환자의 69%(성인) ~ 40%(소아)에서 공동이 발생하며, 전체 척수공동증 사례의 70%가 CM-I와 관련됩니다. CM-I는 소뇌 편도가 두개골 아래로 내려와 CSF 흐름을 막아 공동 형성을 유발합니다.
• 정형외과 증상: 척추측만증(25-74%), 샤르코 관절병증(특히 어깨/팔꿈치), 족궁증(pes cavus), 보행 장애 등이 흔하며, 신경 증상 전에 나타날 수 있습니다. 이는 조기 진단의 단서가 됩니다.
• 사례 예시: 40세 환자에서 척수공동증 확장으로 인한 어깨 관절 파괴(비외상성)가 지연 진단된 경우.

2. 병태생리 (Pathophysiology)

• CM-I로 인한 대공구(foramen magnum) 폐색이 CSF 압력 기울기를 만들어 척수 내로 액체가 유입됩니다.
• 주요 이론:
  • Water hammer theory: 심박동 압력이 척수 중앙관으로 전달되어 공동 형성.
  • Piston theory: 편도가 압력파를 생성.
  • Bernoulli/Venturi 효과: 부분 폐색으로 유속 증가, 공동 확장.
• 결과: 중앙 회백질 압박으로 교차성 감각 상실(통증/온도 감각 소실, '망토형' 분포), 운동 경로 손상으로 약화/경직 발생.
• 정형외과 연결: 고유감각/통증 상실로 관절 파괴(샤르코), 비대칭 근육 지배로 척추측만증 유발. CM-I 관련 공동은 4번째 뇌실과 직접 연결되지 않음(MRI/부검 증거).

3. 임상 양상 (Clinical Presentation)

• 신경 증상: 감각 장애(93%), 근위축(60%), 피라미드 징후(82%), 신경병성 통증, 자율신경 문제(방광 기능 장애).
• 정형외과 증상: 척추측만증(수술 전 척추측만증의 9.7%에서 척수공동증 발견), 샤르코 관절(어깨/팔꿈치 부종, 뼈 흡수, 탈구), 보행 불안정. 증상은 기침/외상으로 악화.
• CM-I 연결: 초기 증상이 정형외과적일 수 있어, 신경 증상 전에 발견 가능. 사례에서 션트 실패 후 지연된 어깨 파괴 관찰.

4. 진단 (Diagnosis)

• 고도의 의심 필요: 비전형 근골격 증상(예: 설명되지 않는 관절 파괴)에서 시작.
• 금기준: MRI (T2 고강도 공동 확인, 공동 폭 >4mm 시 평가 필요). CM-I 동반 여부 확인.
• 추가: Cine MRI로 CSF 흐름 평가(루틴 아님), X-ray/CT로 정형외과 확인.
• 차별 진단: 감염/종양 제외. 플로우차트: 진행성 척추측만증/신경성 관절병증 시 MRI부터 다학제 접근 추천.

5. 치료 옵션 (Treatment Options)

• 보존적: 안정적 경우 우선 – 가바펜틴/프레가발린(통증), 바클로펜(경직), 물리치료(스트레칭, 보조기), 관절 보호(고정, NSAID).
• 수술적: 원인 해결 – CM-I 시 후두하 감압(두개골 절제 + 경막 성형)으로 CSF 흐름 회복. 지속 공동 시 션트(척수아막하/복강) – 최소 침습 선호(합병증 감소).
• 정형외과: 신경 안정화 후 – 샤르코 어깨는 보존적(교육/제한) 우선, 진행 시 관절 보존 수술(위험 높음).
• CM-I 연결: 감압 수술로 공동이 수주~수월 내 호전 가능.

6. 결과 및 예후 (Outcomes)

• 자연 경과: 안정-진행 교대; 조기 수술로 증상 안정화, 척추측만증 진행 중지(모니터링 시 저악화율).
• 션트 성공률 변동적, 재수술 빈번(폐색/감염). 다학제 타이밍 중요(예: 척수고정 전 신경 수술).
• 미치료 시: 샤르코 관절 불가역 파괴. 장기 추적 필수, 재발 가능(사례에서 션트 후 진행 관찰).

7. 결론 및 논쟁점/미래 방향 (Key Conclusions, Controversies, Future Directions)

• 결론: 척수공동증은 CM-I와 밀접(70%), 정형외과 증상(척추측만증 25-74%, 공동 >4mm 기준)이 조기 단서. 다학제 조기 개입으로 후유증 방지; 보존적 주력, 수술은 진행 시.
• 논쟁점: 션트 효과 vs. 재발, 감압 시 경막 개방 여부, 용어 구분(syrinx vs. hydromyelia).
• 미래: 진단 알고리즘 정제(cine MRI 민감도), 최소 침습 션트 최적화, 신경성 관절병증 메커니즘 연구로 관절 보존 개선.

•  
•  

1 May 2025

Orthopedic Manifestations of Syringomyelia: A Comprehensive Review

Mohamad Fadila1,

Geva Sarrabia1,

Shay Shapira1,

Eyal Yaacobi1,

Yuval Baruch2,

Itzhak Engel2 and

Nissim Ohana1,2,*

1

Orthopedic Department, Meir Medical Center, Kfar Saba, Affiliated to Faculty of Health Sciences and Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel

2

Spine Surgery Unit, Meir Medical Center, Affiliated to Faculty of Health Sciences and Medicine, Tel-Aviv University, Tel Aviv 6997801, Israel

*

Author to whom correspondence should be addressed.

J. Clin. Med.2025, 14(9), 3145;https://doi.org/10.3390/jcm14093145

This article belongs to the Special Issue Clinical Advances in Orthopaedic Treatment of Lumbar and Spine Diseases: 2nd Edition

Version Notes

Order Reprints

Article Metrics

Citations2Article Views7321

Academic Editor

Ala Nozari

Ala Nozari

Publication History

• Received:23 March 2025
• Revised:25 April 2025
• Accepted:29 April 2025
• Published:1 May 2025

Article Figures (6)

Related Articles

Optimizing Therapeutic Strategies for Syringomyelia Associated with Tethered Cord Syndrome: A Comprehensive Review

Mohammad Mohsen Moslehet al.Children, 9 August 2024

Surgical Treatment of Spinal Deformities in Pediatric Orthopedic Patients

Sebastian Braunet al.Life, 7 June 2023

Spondylodiscitis in Paediatric Patients: The Importance of Early Diagnosis and Prolonged Therapy

Sonia Bianchiniet al.IJERPH, 7 June 2018

Abstract

Background: Syringomyelia is a complex neurological disorder characterized by a fluid-filled cavity (syrinx) within the spinal cord, frequently resulting from altered cerebrospinal fluid (CSF) dynamics. While its clinical manifestations are diverse, orthopedic complications such as scoliosis, pes cavus, and Charcot arthropathy may represent early diagnostic clues yet are often under-recognized. Methods: This comprehensive review synthesizes the current literature on the pathophysiology, clinical presentation, diagnostic strategies, and management approaches of syringomyelia, with a specific emphasis on its orthopedic manifestations. Additionally, we present a detailed case of neuropathic shoulder arthropathy associated with advanced syringomyelia. Results: Orthopedic involvement in syringomyelia includes progressive spinal deformities and neurogenic joint destruction, particularly affecting the shoulder and elbow. Scoliosis is frequently observed, especially in association with Chiari malformations, and may precede neurologic diagnosis. Charcot joints result from impaired proprioception and protective sensation. The case presented illustrates the diagnostic challenges and therapeutic dilemmas in managing advanced neuro-orthopedic complications in syringomyelia. Conclusions: Syringomyelia should be considered in the differential diagnosis of atypical musculoskeletal presentations. Early recognition and multidisciplinary management are essential to prevent irreversible orthopedic sequelae. Conservative treatment remains the mainstay in stable cases, while surgery is reserved for progressive disease. Orthopedic assessment plays a pivotal role in the diagnostic pathway and long-term care of affected patients.

Keywords:

 syringomyelia; spinal cord diseases; Charcot joint; neurogenic arthropathy; scoliosis; orthopedic procedures; cerebrospinal fluid; Chiari malformation; spasticity; neuropathic pain

1. Introduction

Syringomyelia is an uncommon neurological disorder characterized by the presence of a fluid-filled cavity, or syrinx, within the spinal cord. This cavity typically contains fluid similar in composition to cerebrospinal fluid (CSF). The terms syrinx and syringomyelia are often used interchangeably in the literature. A closely related entity, hydromyelia, refers to a dilated central canal that persists beyond birth. Other terms such as “dilated central canal”, “hydromyelia”, and “slit-like syrinx” are frequently used to describe similar pathological findings within the spinal cord [1]. Syringomyelia can arise from various etiologies, including infectious adhesive arachnoiditis, spinal cord lesions, and traumatic injury. It is most commonly associated with Chiari malformation type 1 (CM-1). With the increasing use of magnetic resonance imaging (MRI) in the eval‎uation of back and neck pain, syringomyelia is often discovered incidentally (Figure 1).

Figure 1. Schematic illustration of syringomyelia demonstrating the formation of a fluid-filled syrinx cavity within the spinal cord. The zoomed-in view highlights the syrinx expanding within the thoracic spinal cord, compressing adjacent neural structures and disrupting cerebrospinal fluid (CSF) dynamics—one of the primary mechanisms underlying the development of syringomyelia.

Symptomatic cases typically present with sensory disturbances, particularly involving pain and temperature sensation. The natural history of syringomyelia is variable and unpredictable, often characterized by alternating periods of stability and progression [2]. The underlying pathophysiology of syringomyelia is primarily attributed to the obstruction of CSF flow within the spinal subarachnoid space. This obstruction can be broadly categorized into two types [2]:

A.

Complete blockage, where the CSF pressure pulse wave is halted at the point of obstruction and transmitted into the spinal cord;

B.

Partial blockage, which allows some degree of CSF flow and is explained by two hemodynamic principles.

The Bernoulli principle posits that as CSF flows through a narrowed channel, velocity increases and pressure decreases. Complementing this is the Venturi effect, wherein rapid fluid movement creates a suction force. These mechanisms contribute to parenchymal dilation beneath the obstruction, facilitating CSF accumulation and gradual syrinx formation through the expansion of extracellular spaces. Evidence of a partial obstruction may be inferred through craniospinal MRI findings, particularly when features of communicative hydrocephalus are present [3].

It is also believed that disturbances in CSF dynamics between the cranial and spinal compartments—particularly during the cardiac systolic and diastolic cycles—play a central role in syrinx development. Nonetheless, the primary etiologies of syringomyelia are closely tied to the underlying pathologic processes [4]. Consequently, current classification systems identify five distinct etiological categories based on pathophysiology, four of which are typically associated with syringomyelia [5]:

•  

•  
•  
•  

Understanding the diverse etiologies, pathophysiological mechanisms, and clinical implications of syringomyelia is essential for accurate diagnosis and effective management. Given its potential to cause significant neurological and orthopedic complications, including musculoskeletal manifestations such as Charcot arthropathy, a comprehensive review is warranted. The following sections will explore the various types, classifications, clinical presentations, and radiographic features of syringomyelia, with a particular emphasis on its orthopedic relevance.

2. Subtypes and Morphological Variants of Syringomyelia

Syringomyelia encompasses a heterogeneous group of spinal cord cavitations, with various clinical and radiographic subtypes distinguished by their underlying etiology and morphological presentations. Among these, non-communicating syringomyelia is considered the most preval‎ent. Based on etiological and anatomical distinctions, four principal types have been described [6]:

•  

4.

Type II: Often considered idiopathic, this type also arises at the foramen magnum but without any identifiable obstruction.

5.

Type III: Secondary to intraspinal disorders, such as tumors, traumatic myelopathy, arachnoiditis, pachymeningitis, or myelomalacia, which directly affect the spinal cord parenchyma.

6.

Type IV: Referred to as pure hydromyelia, characterized by central canal dilatation without clear disruption to surrounding tissue.

In parallel, various morphological classifications have been proposed to describe the spectrum of spinal cord cavities. These include holocord syringomyelia (extending throughout the cord), localized cysts or spindles, and central canal dilatations, which may be seen even in fully developed nervous systems. Although the terminology remains somewhat inconsistent in the literature, distinctions are often made between the following:

•  
•  

Radiologists generally classify larger, eccentric, or irregular cavities as syringomyelia, whereas thin, symmetrical, centrally located dilatations are often labeled as hydromyelia. Despite these distinctions, many experts consider these variations part of a common spectrum, and the term “syringomyelia” remains the most broadly applicable descriptor.

Notably, some debate persists over semantic nuances, including the appropriate plural form—syringes versus syrinxes—although such linguistic distinctions are largely academic and do not affect clinical interpretation [7].

3. Preval‎ence

The reported preval‎ence of syringomyelia varies across populations. It is estimated to affect approximately 1.94 per 100,000 individuals in Japan and 8.4 per 100,000 individuals in Western countries [2,3]. Although syringomyelia is not uncommon in children—particularly those with congenital anomalies such as Chiari malformation type I (CM-1), tethered cord, or arachnoiditis—it is more frequently observed in young adults. The most common underlying etiology remains aberrant cerebrospinal fluid (CSF) flow across the foramen magnum, accounting for nearly 70% of cases. This is followed by arachnoiditis, and, less frequently, post-traumatic syringomyelia, which accounts for fewer than 4% of cases [1]. Discrepancies in preval‎ence estimates are likely influenced by differences in study populations and variability in the sensitivity of Chiari malformation detection across imaging protocols. Notably, children and young adults are more likely to exhibit low cerebellar tonsil position and Chiari malformation on MRI compared to older individuals. Studies involving larger cohorts of older patients tend to report lower preval‎ence rates, highlighting the role of age and imaging interpretation in epidemiologic variation [8].

4. Etiology

Syringomyelia is a multifactorial condition with a range of underlying causes that contribute to syrinx formation. These etiologies can be broadly categorized into Chiari-related, primary spinal, and acquired or iatrogenic risk factors. Understanding these distinct mechanisms is essential for guiding diagnostic eval‎uation and management strategies.

4.1. Chiari-Related Syringomyelia

Chiari malformation, particularly Chiari malformation type I (CM-I), is the most common cause of syringomyelia. It is estimated that approximately 69% of adults and 40% of children with CM-I will develop a syrinx [9]. Historically, the term “communicating syringomyelia” was used to describe this subtype, based on early theories suggesting a direct connection between the fourth ventricle and the syrinx cavity. This concept formed the basis of Gardner’s surgical approach, which involved placing a tissue plug at the inferior aspect of the fourth ventricle (the obex) to prevent CSF transmission. However, subsequent studies suggested that the success of such procedures may have been more attributable to posterior fossa decompression and intradural exposure, rather than the plug itself. Postmortem examinations have demonstrated that in most cases of Chiari-related syringomyelia, there is no anatomical connection between the fourth ventricle and the syrinx, a finding corroborated by modern MRI studies [10,11].

4.2. Primary Spinal Syringomyelia (PSS)

Primary spinal syringomyelia refers to cases where the syrinx develops due to pathology intrinsic to the spine, without associated abnormalities at the craniocervical junction. This form of syringomyelia is considerably less common than Chiari-related variants.

Recognized causes of PSS include the following:

•  
•  
•  

While intraspinal neoplasms may present with associated cystic cavities, they are not typically classified as true syringomyelia unless they significantly compromise CSF flow by narrowing the subarachnoid space. Additionally, structural anomalies such as spondylotic ridges or intervertebral disc herniations may create partial CSF flow obstruction, contributing to syrinx formation through pressure differentials [4]. In rare cases, syrinx rupture and subsequent communication with the subarachnoid space can occur, especially following spinal cord injury [12].

4.3. Tethered Cord Syndrome and Spina Bifida

An important, though sometimes under-recognized, subset of syringomyelia cases is associated with congenital spinal dysraphisms, particularly tethered cord syndrome (TCS). TCS may arise as part of spina bifida occulta or aperta, conditions characterized by abnormal fixation of the spinal cord resulting in restricted movement. This abnormal tension can disrupt cerebrospinal fluid dynamics, contributing to the formation of a syrinx and the development of neuromuscular scoliosis. It is crucial to recognize that, in patients presenting with neuromuscular scoliosis and syringomyelia, especially in the context of underlying spinal dysraphism, comprehensive eval‎uation for TCS and spina bifida should be undertaken. In such cases, neurosurgical intervention aimed at untethering the spinal cord is recommended as the initial step. Only after the underlying tethering has been addressed should orthopedic correction of the spinal deformity be considered, as this sequence reduces the risk of neurological deterioration and improves surgical outcomes [13,14].

4.4. Risk Factors for Syringomyelia

Beyond well-established etiologies, several risk factors have been identified that may increase susceptibility to syringomyelia. Among iatrogenic factors, conditions such as increased surgical site bleeding or traumatic lumbar punctures may promote arachnoid fibrosis, which can impair CSF circulation. Post-traumatic syringomyelia is of particular clinical interest. The most significant risk factor appears to be complete spinal cord injury, defined as grade A on the American Spinal Injury Association (ASIA) Impairment Scale, which is associated with a twofold increase in the risk of syrinx development. Other recognized contributors include the following:

•  
•  

Importantly, the presence of these risk factors does not necessarily mandate surgical intervention but should prompt careful monitoring and radiological eval‎uation [15].

5. Pathophysiology

5.1. Theoretical Perspectives on Syringomyelia Formation

Multiple theories have been proposed to explain syringomyelia pathophysiology, but no single model accounts for all cases. Contemporary views focus on altered cerebrospinal fluid (CSF) dynamics and pressure gradients within the spinal cord, particularly due to obstruction at key anatomical sites. Classic theories—including those by Gardner, Williams, Heiss, and Oldfield—highlight the role of disrupted CSF flow at the foramen magnum and the impact of cerebellar tonsillar herniation. Although early hypotheses varied, it is now widely accepted that partial CSF obstruction leads to pressure differentials, promoting syrinx formation and progression [16,17,18].

5.2. Mechanisms of Syrinx Formation

Syrinx formation is primarily attributed to altered CSF flow dynamics, often due to mechanical obstruction from Chiari malformations, spinal trauma, tumors, or arachnoid adhesions. These obstructions create pressure gradients that drive CSF into the spinal cord, resulting in cavity formation and progressive tissue damage. In Chiari-related syringomyelia, the exact mechanisms remain incompletely understood, but several hypotheses have been proposed:

•  
•  
•  
•  
•  

Spontaneous syrinx resolution, although rare, is hypothesized to occur when tonsillar descent decreases slightly or CSF flow improves at the craniocervical junction, restoring pressure equilibrium. This supports Stoodley’s model, in which syrinx volume reflects the balance between CSF inflow and outflow [23].

Syringomyelia can also develop in individuals without known risk factors or in association with spinal cord tumors, trauma, or scarring. Up to 30% of spinal cord tumors are associated with syrinx formation, likely due to CSF flow disruption. The gray matter, located centrally in the spinal cord, is often involved early, as it contains the neuronal cell bodies, while the white matter, composed of axons, is affected as the syrinx expands. The central canal, which houses the CSF, is located at the core of the gray matter [15].

5.3. Impact on the Spinal Cord

The expanding syrinx can cause progressive neurological damage by compressing spinal cord structures, particularly in the cervical and thoracic regions, which are responsible for motor and sensory innervation of the upper limbs. This pressure can disrupt local neural circuits, leading to autonomic dysfunction, sensory loss, and muscular weakness [24]. The clinical impact is highly dependent on the size, location, and progression rate of the syrinx, as well as the extent of spinal cord involvement.

6. Orthopedic Manifestations and Musculoskeletal Involvement

Orthopedic manifestations of syringomyelia are often under-recognized but may provide critical early diagnostic clues. Common findings include scoliosis, pes cavus, progressive gait disturbances, and neurogenic arthropathies (Charcot joints), especially of the shoulder and elbow [25]. These complications typically result from disruption of motor and sensory spinal pathways and may represent the first clinical presentation in some patients. Early orthopedic imaging plays a pivotal role in the assessment of patients presenting with atypical musculoskeletal symptoms—such as unexplained joint destruction, rapidly progressive scoliosis, or neurogenic arthropathy. Prompt radiographic and advanced imaging studies, including MRI, can reveal underlying spinal cord pathology such as syringomyelia at an early stage, enabling multidisciplinary intervention and reducing the risk of delayed diagnosis and irreversible complications [24,25,26,27].

6.1. Scoliosis in Syringomyelia

Among the orthopedic complications, scoliosis holds particular significance. Multiple studies have demonstrated a strong association between syringomyelia and scoliosis, particularly in cases involving Chiari malformation. Scoliosis has been reported in 25% to 74% of patients with syringomyelia, while syringomyelia is found in up to 9.7% of patients with scoliosis undergoing preoperative imaging [26,27].

While often considered a consequence of asymmetrical paraspinal muscle innervation caused by syrinx-induced motor neuron dysfunction, some authors have also proposed an etiological link to chronic atlantoaxial instability, where syringomyelia and scoliosis may represent adaptive spinal responses to subtle instability at the craniocervical junction [28].

The characteristics and extent of the syrinx cavity appear to correlate with neurological involvement and scoliosis progression. A syrinx width greater than 4 mm is commonly regarded as a threshold for neurosurgical eval‎uation, as larger cavities are more likely to cause progressive neurological symptoms and spinal deformity [26]. The configuration of the syrinx and its relationship to curve convexity may influence progression patterns, although not uniformly [26,27].

Management strategies must be individualized. In patients with significant neurological symptoms or large syrinx cavities, posterior fossa decompression or syrinx shunting is typically considered prior to scoliosis correction [26,27]. In neurologically stable patients with minimal syrinx diameter, orthopedic correction with neuromonitoring may proceed safely without prior neurosurgical intervention. Several studies report favorable outcomes in scoliosis correction following neurosurgical stabilization, with low rates of progression and neurological deterioration when appropriate multidisciplinary planning is undertaken [26,27].

Importantly, MRI should be strongly considered in scoliosis patients presenting with atypical curve patterns, rapid progression, neurological symptoms, or significant back pain out of proportion to deformity. In such cases, a high index of suspicion for underlying intraspinal pathology—including syringomyelia—is warranted.

6.2. Neurological Features with Musculoskeletal Implications

As a syrinx expands, it can disrupt the decussating fibers of the lateral spinothalamic tracts, which are responsible for transmitting pain and temperature sensation (Figure 2).

Figure 2. Cross-sectional schematic of the spinal cord illustrating the anatomical impact of syringomyelia. The expanding syrinx centrally disrupts the decussating fibers of the lateral spinothalamic tracts, leading to dissociated sensory loss—typically affecting pain and temperature sensation. The dorsal columns, lateral corticospinal tracts, and anterior horns may also become progressively compromised as the syrinx enlarges, resulting in motor weakness and additional sensory deficits.

Clinical symptoms are often diverse and may mimic other neurological conditions, ranging from atypical chest pain to multiple sclerosis. The pattern of sensory complaints typically follows a dermatomal distribution, often in the cervical or thoracic regions. Early manifestations may include unilateral hypesthesia in the arm, hand, or axilla, accompanied by reduced reflexes. A hallmark sensory presentation is the “cape-like” distribution of sensory loss, involving the nape of the neck, shoulders, and upper arms (Figure 3).

Figure 3. Cross-sectional spinal cord diagram demonstrating the anatomical disruption caused by an expanding syrinx. The syrinx originates centrally and enlarges outward, compressing surrounding neural structures. Early involvement of the decussating spinothalamic fibers explains the characteristic dissociated sensory loss (pain and temperature), while further expansion may affect the lateral corticospinal tracts (motor pathways) and anterior horn cells (lower motor neurons), contributing to progressive motor deficits.

If the syrinx extends anteriorly, it may produce lower motor neuron weakness, while lateral expansion can result in upper motor neuron signs below the level of the lesion. As the cavity continues to enlarge, patients may develop bilateral paresthesia and progressive weakness. Symptoms may initially appear subtle—such as an inability to sense heat from a coffee mug—before evolving into more disabling features like difficulty climbing stairs due to spasticity and motor weakness.

In cases where the syrinx extends into the brainstem, symptoms may involve cranial nerve dysfunction, producing ipsilateral facial sensory loss, dysphagia, tongue weakness, ptosis, miosis, or diplopia. Autonomic involvement may manifest as loss of facial sweating or altered temperature sensation. Additionally, gastrointestinal symptoms such as nausea, vomiting, feeding difficulties, weight loss, or visceral contractions may arise due to the involvement of esophageal and autonomic visceral reflex centers.

6.3. Charcot Joints and Neurogenic Arthropathy

Syringomyelia may also present with orthopedic complications due to its impact on both motor and sensory pathways. One of the most distinctive manifestations is neurogenic arthropathy (Charcot joint), most commonly affecting the shoulder, although other joints such as the elbow may also be involved [25]. This progressive condition is characterized by soft tissue swelling, bone resorption, joint space narrowing, intra-articular calcification, and eventual joint subluxation or dislocation. Syringomyelia is considered the second most common cause of Charcot joint, although its exact pathological mechanism remains unclear.

In many cases, patients are first referred to an orthopedic surgeon, often before a neurological diagnosis has been established. Despite its under-recognition, syringomyelia is not as rare as it may be perceived. However, its clinical presentation can be highly variable, and diagnosis may be overlooked if eval‎uation focuses solely on classic deformities such as scoliosis or pes cavus. Localized pain in the head, neck, trunk, or limbs—especially when exacerbated by exertion—should raise clinical suspicion.

Certain clinical clues may aid diagnosis. A history of birth trauma, especially when accompanied by later-developing spasticity, may be relevant. Additional findings include nystagmus, dissociated sensory loss, muscle atrophy, and lower limb spasticity, along with the presence of Charcot joints. Radiographic findings may also support the diagnosis—such as spinal canal enlargement and degenerative changes in the cervical vertebrae. A pathological expansion of the spinal canal is considered significant when, at the C5 level, its diameter exceeds the vertebral body by 6 mm or more [29].

Interestingly, syringomyelia symptoms may be triggered or exacerbated by acceleration–deceleration forces such as roller coaster rides, intense coughing, minor trauma, or even sneezing. These events may transiently elevate CSF pressure and provoke syrinx expansion, resulting in acute symptom onset or progression. It is hypothesized that such CSF dynamics can facilitate fluid movement into the cavity, worsening spinal cord compression and promoting neurological deterioration.

6.4. Illustrative Clinical Case

A notable case from our clinical experience illustrates the orthopedic implications of advanced syringomyelia. A 40-year-old woman, morbidly obese and a mother of three, had experienced progressive gait disturbance over several years. Neurological eval‎uation revealed a type IV idiopathic syringomyelia involving the entire thoracic spinal cord, with extension into the proximal cervical segments. Due to ongoing neurological decline and emerging urinary dysfunction, she underwent subarachnoid–peritoneal shunt surgery at the D11–D12 level three years ago. Unfortunately, postoperative outcomes were unfavorable, and her condition progressed to complete paraplegia with loss of bowel and bladder control. Although additional syrinx decompression surgery was proposed, the patient declined further intervention. Over time, her neurological status continued to deteriorate, and she recently developed progressive weakness in the left upper limb, further complicating her clinical course.

She was subsequently admitted to our department with a six-week history of progressive pain and functional impairment of the left shoulder, with no history of trauma. On examination, the shoulder appeared swollen and mildly warm, with complete loss of active movement and significant limitation of passive mobility, especially in abduction and external rotation. Laboratory studies revealed a normal white blood cell count and a mildly elevated C-reactive protein (CRP) level of 9 mg/L. MRI demonstrated significant thoracic and cervical spine syringomyelia (Figure 4).

Figure 4. MRI of the thoracic spine in a patient with syringomyelia. (A) Sagittal T2-weighted image demonstrating an elongated, hyperintense intramedullary cavity consistent with a syrinx extending along the thoracic spinal cord. (B) Axial T2-weighted image showing a well-defined syrinx centrally located within the spinal cord, causing expansion of the cord parenchyma.

Radiographs (Figure 5A) and a CT scan of her left shoulder (Figure 5B), showed severe humeral head destruction.

Figure 5. Radiographic and 3D imaging of a neurogenic (Charcot) shoulder joint in a patient with syringomyelia. (A) Plain radiograph showing marked destruction of the humeral head, joint subluxation, and loss of normal articular contours. (B) Three-dimensional reconstructed CT image highlighting severe bony fragmentation, deformity, and intra-articular debris consistent with advanced neuropathic arthropathy.

Joint aspiration yielded reactive synovial fluid without evidence of infection; Gram stain and cultures were negative.

The clinical and radiological findings were consistent with a Charcot joint of the shoulder, a rare yet well-recognized complication of syringomyelia involving the cervical and upper thoracic spinal cord. This case underscores the importance of orthopedic vigilance in neurologically impaired patients, in whom joint destruction can progress silently due to loss of proprioceptive and nociceptive feedback.

7. Diagnosis

Diagnosis of syringomyelia can be challenging due to its diverse clinical presentations and often insidious onset. While it is frequently discovered incidentally during imaging for unrelated complaints, a structured diagnostic approach remains essential. The following subheadings outline key aspects of clinical assessment and imaging modalities used in the diagnosis of this condition.

7.1. Clinical Presentation

Although syringomyelia is often diagnosed incidentally, most symptomatic patients initially present with sensory disturbances, most commonly pain and impaired temperature sensation. The widespread use of magnetic resonance imaging (MRI) for the eval‎uation of back and neck pain has contributed to the increasing detection of this condition. The natural history of syringomyelia is highly variable, typically characterized by periods of clinical stability interspersed with progression. In most cases, the clinical course evolves gradually over months to years, often beginning with a phase of rapid decline, followed by a slower, more protracted deterioration [30].

Post-traumatic syringomyelia, in particular, has been the subject of extensive research. Patients with previously stable spinal cord injuries may develop delayed neurological deterioration, with clinical symptoms typically manifesting approximately nine years after the initial trauma [31]. Common symptoms include motor weakness, chronic pain, and altered sensation. However, syringomyelia lacks a pathognomonic symptom complex and may mimic a variety of neurological syndromes, complicating early diagnosis.

Among recognized clinical syndromes, central cord syndrome is most commonly associated with syringomyelia. This syndrome arises when the syrinx primarily affects the central gray matter of the spinal cord. Clinical features often include temperature dysregulation, ulcer formation, and signs of lower motor neuron dysfunction, such as muscle atrophy, flaccid weakness, and diminished reflexes at the level of the lesion.

A study by Bogdanov et al. explored whether Chiari-related and non-Chiari syringomyelia present with differing symptom profiles. The findings revealed similar symptom frequencies in both groups, with segmental sensory loss (93%), muscle atrophy (60%), and pyramidal signs (82%) being the most preval‎ent findings [18].

•  
•  

Not all patients present with the classic triad of burning pain, segmental weakness, and dissociated sensory loss.

•  

Early symptoms often play a critical role in predicting long-term outcomes, underscoring the importance of timely diagnosis and intervention. In centrally located syrinxes, involvement of the gray commissures in lamina X contributes directly to dissociated sensory loss. Additional manifestations may include autonomic bladder dysfunction, typically resulting from disruption of descending autonomic pathways. Bowel dysfunction, however, tends to emerge in later stages due to the involvement of laminae VII (Clarke’s column)—which contains preganglionic autonomic neurons—and laminae VIII and IX, which are associated with skeletal motor control.

Other frequently encountered symptoms include the following:

•  
•  
•  
•  
•  
•  

Spasticity often progresses with the advancement of syringomyelia and may significantly impact functional mobility. Nonetheless, the disease typically progresses slowly and insidiously, and many patients exhibit relatively stable neurological signs for extended periods [32].

7.2. Imaging Studies

While clinical suspicion remains the cornerstone of diagnosis, imaging plays a pivotal role in confirm‎ing syringomyelia and assessing its underlying cause. Syringomyelia should be considered in patients with the following:

•  
•  
•  
•  

Although clinical and imaging findings can support diagnosis, there remains no universally accepted gold standard for confirm‎ing syringomyelia [16].

7.3. MRI and Cine MRI

Magnetic resonance imaging (MRI) is now the preferred imaging modality for diagnosing syringomyelia. MRI provides detailed visualization of the spinal cord, syrinx cavity, and associated anomalies such as Chiari malformations. In selected cases, cine MRI—a dynamic phase-contrast technique used to assess pulsatile cerebrospinal fluid (CSF) flow—may aid in eval‎uating CSF dynamics. However, its routine use in syringomyelia assessment remains limited. Some studies, including those by Inoue et al., have attempted to correlate syrinx morphology (size, shape, and location) with the site of obstruction, but the ability of MRI to localize the exact point of CSF flow impairment remains limited [21]. Although cine MRI may offer better functional imaging than CT-myelography, it is still not consistently reliable in pinpointing flow blockages [18]. Furthermore, there is currently no standardized data on the sensitivity and specificity of these techniques in syringomyelia diagnosis.

7.4. Diagnostic Workup: Stepwise Flowchart

To enhance clinical clarity, we have included a flowchart outlining the recommended diagnostic pathway for suspected syringomyelia in patients presenting with orthopedic manifestations. This stepwise approach highlights key clinical decision points and supports effective multidisciplinary management (see Figure 6).

Figure 6. Suggested flowchart for the diagnostic workup of suspected syringomyelia in patients presenting with orthopedic symptoms. Multidisciplinary collaboration is recommended at each step to optimize patient outcomes.

8. Management

The management of syringomyelia typically follows one of two main approaches: conservative treatment or surgical intervention [32,33]. This depends on the severity of symptoms, radiological findings, and progression of neurological deficits. While surgery is often indicated in cases of significant spinal cord compression or rapidly evolving neurological impairment, conservative treatment remains the first-line approach for patients with mild or stable disease, with a focus on symptom control and quality of life enhancement.

8.1. Conservative Management

Conservative treatment includes medical management for symptom relief and physical therapy to support function and mobility.

•  

Pharmacologic therapy targets neuropathic pain, spasticity, and associated neurological symptoms, and involves several classes of medications:

A.

Anticonvulsant Agents: Gabapentin and pregabalin have been shown to improve neuropathic pain, including hyperalgesia and allodynia, through modulation of voltage-gated calcium channels [34,35,36,37,38]. Pregabalin has also demonstrated efficacy in reducing phantom scratching and other sensory disturbances [35].

B.

Proton Pump Inhibitors (e.g., Omeprazole): Anecdotal reports have suggested that PPIs may reduce CSF production, potentially relieving syringomyelia symptoms, though evidence is limited and clinical studies have failed to confirm‎ a significant CSF-lowering effect [39,40,41].

C.

Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): Some studies suggest a role for COX-2 inhibitors (e.g., carprofen, meloxicam, deracoxib, and firocoxib) in the relief of neuropathic pain in syringomyelia, though the results remain debated [34,40].

D.

Carbonic Anhydrase Inhibitors (e.g., Acetazolamide): These agents may reduce CSF flow and have been proposed as adjuncts in conservative management [41].

E.

Corticosteroids: Prednisolone and methylprednisolone may help reduce both pain and neurologic symptoms, possibly by modulating substance P and inflammatory mediators. However, long-term use is limited by side effects such as immunosuppression, weight gain, and metabolic disturbances [17,42].

F.

Opioids: Opioid medications are occasionally used, particularly in the postoperative setting. Methadone, with its NMDA receptor antagonist activity, may provide better control of intractable neuropathic pain, although tolerance and dependency issues limit their long-term use [43,44,45].

G.

Diuretics (e.g., Furosemide): Furosemide may help lower intracranial pressure, although some studies suggest its effects may be secondary to diuresis rather than direct CSF pressure reduction, and results remain inconclusive [17,45,46].

2.

Management of Spasticity

Spasticity, often a consequence of upper motor neuron involvement, requires individualized assessment and treatment. Symptoms may include spasms, clonus, hyperreflexia, and muscle co-contraction [47,48]. This includes the following:

A.

Baclofen (a GABA receptor agonist)—first-line treatment for spasticity [49,50].

B.

Tizanidine, clonidine, dantrolene, and benzodiazepines—adjunctive agents with variable efficacy and tolerability [48,49,50].

C.

Botulinum toxin injections—effective in focal spasticity, often used in combination with physiotherapy [49].

D.

Intrathecal baclofen, delivered via an implantable pump, may be considered in generalized, drug-refractory spasticity [48,49].

3.

Physical Therapy and Rehabilitation

Physical therapy is a core component of conservative care. Interventions may include the following:

•  
•  
•  
•  
•  

These techniques can help modulate spasticity, improve functional mobility, and maintain independence [51].

Although robust data are limited, postoperative physical rehabilitation and conservative physiotherapy in non-surgical candidates have shown beneficial effects on functional outcomes and quality of life [52].

8.2. Surgical Management

Surgical intervention remains the mainstay of treatment in patients with syringomyelia presenting with progressive neurological symptoms or functional impairment, particularly when a syrinx cavity is associated with mechanical obstruction. While some researchers advocate conservative monitoring in stable cases due to the often slow progression of motor deficits [53], others support early surgical intervention to prevent irreversible neurological deterioration [54].

The primary goal of surgical treatment is to address the underlying cause of syrinx formation, restore cerebrospinal fluid (CSF) flow, and alleviate spinal cord compression [55]. The selection of surgical technique depends on the etiology of syringomyelia, anatomical location, and individual patient characteristics.

A.

Suboccipital Decompression (Posterior Fossa Decompression): In patients with Chiari malformation type I (CM-I), the most commonly performed procedure is posterior fossa decompression (PFD) or craniocervical decompression, which aims to reestablish normal CSF circulation by removing bone at the foramen magnum and often includes dural opening and duraplasty [56,57,58,59]. There is ongoing debate regarding the extent of decompression, particularly the need to open the dura. Some surgeons advocate dural opening with a patch graft, citing its importance in identifying and releasing arachnoid scarring or other obstructions, which are present in up to 55% of cases [57]. Others argue that dural opening may increase the risk of complications. Intraoperative ultrasonography has been proposed to optimize decompression and tailor surgery to individual CSF flow dynamics [17].

B.

Shunt Placement: In cases where decompression does not result in syrinx regression, or in post-traumatic syringomyelia, shunt placement may be considered. Various shunt types include the following:

•  
•  
•  

These techniques divert CSF from the syrinx into extradural or extracorporeal compartments, alleviating pressure and preventing further expansion [45,59]. Syringosubarachnoid shunting, particularly when performed using minimally invasive surgical (MIS) techniques, has been associated with reduced postoperative complications, such as CSF leaks, wound infections, and prolonged recovery [45,59]. However, shunting is not without limitations. Shunt obstruction, infection, or failure requiring revision surgery is common, and direct syrinx drainage is often associated with high failure rates and potential for cord tethering [45,59].

C.

Spinal Cord Surgery and Direct Decompression: In select cases, direct surgical decompression of spinal cord cavities may be required. Techniques include restoration of subarachnoid pathways or syrinx drainage via myelotomy. However, these procedures pose significant risks, including dorsal column injury, especially in patients who retain some neurological function [60]. Moreover, septated syrinx cavities may limit the effectiveness of shunting, and unless the underlying cause of fluid accumulation is addressed, new cavities may continue to form despite successful decompression [60].

D.

Etiology-Directed Surgery: In cases where the syrinx is caused by an identifiable compressive lesion, such as a tumor or scar tissue, removal of the obstruction can restore CSF flow and often lead to syrinx resolution [61]. Tumor resection, when feasible, remains the primary approach, although radiation therapy may be considered in certain scenarios.

E.

Drainage Procedures: In patients with idiopathic or progressively enlarging syrinx cavities, drainage via stent or shunt placement may be considered. A stent allows for internal diversion of syrinx fluid, while a shunt system, typically composed of a catheter and valve mechanism, diverts fluid to pleural or peritoneal spaces [62]. These procedures may stabilize or improve symptoms, although long-term success varies, and some patients may experience recurrence requiring reoperation [63].

Following surgery, MRI is used to monitor the syrinx cavity, with reduction or stabilization considered indicative of a favorable response. Although surgery can significantly improve symptoms and slow disease progression, recurrence remains possible, underscoring the need for ongoing clinical and radiological follow-up.

9. Treatment Considerations in Charcot Shoulder

The clinical approach to neuropathic shoulder arthropathy—particularly in the context of syringomyelia—requires a high index of suspicion, comprehensive neurological assessment, and appropriate imaging to exclude other etiologies such as infection, neoplasm, or inflammatory arthropathy. As highlighted in the literature [64,65], the orthopedic surgeon is often the first to eval‎uate such patients due to joint-related complaints, despite the underlying neurologic pathology being the primary cause.

Conservative management remains the cornerstone of initial treatment and includes patient education, joint protection, weight-bearing restriction, immobilization, and physical therapy focused on preserving passive range of motion and limiting further joint destruction. Nonsteroidal anti-inflammatory drugs (NSAIDs) may be used to address secondary synovitis. Once the active neurologic process is stabilized—often following neurosurgical decompression—surgical options may be considered for select patients. These include joint-preserving procedures such as shoulder resurfacing arthroplasty or humeral head replacement, particularly when the joint remains unstable or severely dysfunctional despite conservative care. However, surgical intervention should be approached with caution, considering the inherent risks of instability, infection, and prosthetic failure due to the loss of protective proprioception and muscle control.

Back to Our Patient

The patient’s neurological status was defined as a failed syrinx decompression, with persistent and irreversible loss of neurological function. Additionally, the patient declined further spinal surgical intervention. The resulting chronic paraplegic state, accompanied by recent onset of left hand weakness, significantly influenced clinical decision-making. Given the extent of neurological damage and the advanced stage of joint destruction, it was concluded that orthopedic surgery would offer limited benefit. The presence of a neuropathic joint, combined with complete paralysis of the surrounding musculature, predicted a high risk of surgical failure. As such, a conservative management strategy was adopted, focusing on pain control, joint protection, and preservation of functional independence. This case underscores the importance of individualized treatment planning, particularly when orthopedic complications coexist with severe and irreversible neurological impairment.

10. Summary and Conclusions

Syringomyelia remains a complex and multifaceted neurological disorder characterized by the development of a fluid-filled cavity within the spinal cord. Its clinical presentation is often subtle and variable, ranging from mild sensory disturbances to severe motor deficits and orthopedic complications, such as Charcot arthropathy. The diagnostic process can be challenging, as symptoms frequently mimic other neurological conditions and may initially present to non-neurological specialists, particularly in orthopedic settings.

The orthopedic manifestations of syringomyelia are often under-recognized, yet they may be among the earliest signs of the disease. Neurogenic joint arthropathy, postural deformities, pes cavus, scoliosis, and progressive gait disturbances can be key clinical clues, often prompting referral to orthopedic care. A high index of suspicion is essential, as failure to identify the underlying neurological etiology may delay appropriate treatment and result in irreversible damage.

One particularly rare but illustrative manifestation is neuropathic shoulder arthropathy, which can result in silent and progressive joint destruction due to impaired protective sensation and proprioception. Such cases may initially present with pain, stiffness, or loss of shoulder function without a clear traumatic history, underscoring the need for orthopedic teams to consider syringomyelia in the differential diagnosis. Early recognition of this phenomenon is critical to avoid misdiagnosis and to guide appropriate multidisciplinary management.

The pathophysiology of syringomyelia is rooted in abnormal cerebrospinal fluid dynamics, often secondary to structural abnormalities such as Chiari malformation, spinal trauma, tumors, or arachnoid adhesions. A growing understanding of these mechanisms has advanced both conservative and surgical management strategies.

Management approaches must be individualized. While conservative treatment, including pharmacologic symptom control and physical rehabilitation, remains the first-line strategy in patients with stable or mild symptoms, surgical intervention becomes imperative in progressive cases or those with identifiable structural compression. Posterior fossa decompression, shunting procedures, and minimally invasive spinal techniques each have a defined role depending on the underlying cause and clinical course.

Ultimately, timely recognition, multidisciplinary eval‎uation, and individualized treatment planning are essential to optimizing outcomes in patients with syringomyelia. Incorporating orthopedic perspectives early in the diagnostic and therapeutic process is particularly important, especially when musculoskeletal complaints are the first clinical manifestation. Long-term follow-up is critical, as syringomyelia may progress or recur—even after apparently successful treatment, as demonstrated in our case. Continued research is needed to refine treatment algorithms and enhance diagnostic accuracy, particularly in early-stage or asymptomatic patients. Recognizing and appropriately managing underlying conditions such as tethered cord syndrome and spina bifida is essential in the comprehensive care of patients with syringomyelia and neuromuscular scoliosis. Early diagnosis and timely neurosurgical intervention can optimize neurological outcomes and ensure safer orthopedic correction, when indicated.

11. Key Messages

•  
•  
•  
•  
•  
•  
•  
•  

Funding

This research received no external or other specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Conflicts of Interest

The authors declare no conflicts of interest.

References

1. Leclerc, A.; Matveeff, L.; Emery, E. Syringomyelia and hydromyelia: Current understanding and neurosurgical management. Rev. Neurol. 2021, 177, 498–507. [Google Scholar] [CrossRef] [PubMed]
2. Roy, A.K.; Slimack, N.P.; Ganju, A. Idiopathic syringomyelia: Retrospective case series, comprehensive review, and update on management. Neurosurg. Focus 2011, 31, E15. [Google Scholar] [CrossRef]
3. Sabellano, Z.; Batino, L.; Navarro, J.J. Atypical presentation of syringomyelia mimicking as motor neuron disease: A case report. Clin. Imag. Med. Case Rep. 2023, 4, 2685. [Google Scholar] [CrossRef]
4. Heiss, J.D.; Snyder, K.; Peterson, M.M.; Patronas, N.J.; Butman, J.A.; Smith, R.K.; DeVroom, H.L.; Sansur, C.A.; Eskioglu, E.; Kammerer, W.A.; et al. Pathophysiology of primary spinal syringomyelia. J. Neurosurg. Spine 2012, 17, 367–380. [Google Scholar] [CrossRef] [PubMed]
5. Blegvad, C.; Grotenhuis, J.; Juhler, M.J. Syringomyelia: A practical, clinical concept for classification. Acta Neurochir. 2014, 156, 2127–2138. [Google Scholar] [CrossRef]
6. Ciaramitaro, P.; Garbossa, D.; Peretta, P.; Piatelli, G.; Massimi, L.; Valentini, L.; Migliaretti, G.; Baldovino, S.; Roccatello, D.; Kodra, Y.; et al. Syringomyelia and Chiari Syndrome Registry: Advances in epidemiology, clinical phenotypes and natural history based on a North Western Italy cohort. J. Neurosurg. Sci. 2020, 56, 48–58. [Google Scholar]
7. Flint, G.J. Syringomyelia: Diagnosis and management. Pr. Neurol. 2021, 21, 403–411. [Google Scholar] [CrossRef]
8. Kahn, E.N.; Muraszko, K.M.; Maher, C.O. Preval‎ence of Chiari I malformation and syringomyelia. Neurosurg. Clin. N. Am. 2015, 26, 501–507. [Google Scholar] [CrossRef]
9. Arnautovic, A.; Splavski, B.; Boop, F.A.; Arnautovic, K.I. Pediatric and adult Chiari malformation Type I surgical series 1965–2013: A review of demographics, operative treatment, and outcomes. J. Neurosurg. Pediatr. 2015, 15, 161–177. [Google Scholar] [CrossRef]
10. Milhorat, T.H.; Capocelli, A.L.; Anzil, A.P.; Kotzen, R.M.; Milhorat, R.H. Pathological basis of spinal cord cavitation in syringomyelia: Analysis of 105 autopsy cases. J. Neurosurg. 1995, 82, 802–812. [Google Scholar] [CrossRef]
11. Holly, L.T.; Batzdorf, U. Chiari malformation and syringomyelia: JNSPG 75th anniversary invited review article. J. Neurosurg. Spine 2019, 31, 619–628. [Google Scholar] [CrossRef] [PubMed]
12. Alperin, N.; Loftus, J.R.; Bagci, A.M.; Lee, S.H.; Oliu, C.J.; Shah, A.H.; Green, B.A. Magnetic resonance imaging–based measures predictive of short-term surgical outcome in patients with Chiari malformation Type I: A pilot study. J. Neurosurg. Pediatr. 2017, 26, 28–38. [Google Scholar] [CrossRef]
13. Lapsiwala, S.B.; Iskandar, B.J. The tethered cord syndrome in adults with spina bifida occulta. Neurol. Res. 2004, 26, 735–740. [Google Scholar] [CrossRef] [PubMed]
14. Mosleh, M.M.; Sohn, M.-J. Optimizing Therapeutic Strategies for Syringomyelia Associated with Tethered Cord Syndrome: A Comprehensive Review. Children 2024, 11, 961. [Google Scholar] [CrossRef]
15. Ko, H.Y.; Kim, W.; Kim, S.Y.; Shin, M.J.; Cha, Y.S.; Chang, J.H.; Shin, Y.B. Factors associated with early onset post-traumatic syringomyelia. Spinal Cord. 2012, 50, 695–698. [Google Scholar] [CrossRef] [PubMed]
16. Sakas, D.E.; Korfias, S.I.; Wayte, S.C.; Beale, D.J.; Papapetrou, K.P.; Stranjalis, G.S.; Whittaker, K.W.; Whitwell, H.L. Chiari malformation: CSF flow dynamics in the craniocervical junction and syrinx. Acta Neurochir. 2005, 147, 1223–1233. [Google Scholar] [CrossRef]
17. Rusbridge, C.; Greitz, D.; Iskandar, B.J. Syringomyelia: Current concepts in pathogenesis, diagnosis, and treatment. J. Vet. Intern. Med. 2006, 20, 469–479. [Google Scholar] [CrossRef]
18. Giner, J.; López, C.P.; Hernández, B.; de la Riva, Á.G.; Isla, A.; Roda, J. Update on the pathophysiology and management of syringomyelia unrelated to Chiari malformation. Neurocirugia 2019, 34, 318–325. [Google Scholar] [CrossRef]
19. Gardner, J.W.; Angel, J. The mechanism of syringomyelia and its surgical correction. Neurosurgery 1959, 6, 131–140. [Google Scholar] [CrossRef]
20. Ball, M.; Dayan, A. Pathogenesis of syringomyelia. Lancet 1972, 300, 799–801. [Google Scholar] [CrossRef]
21. Oldfield, E.H.; Muraszko, K.; Shawker, T.H.; Patronas, N.J. Pathophysiology of syringomyelia associated with Chiari I malformation of the cerebellar tonsils: Implications for diagnosis and treatment. J. Neurosurg. 1994, 80, 3–15. [Google Scholar] [CrossRef] [PubMed]
22. Stoodley, M.A.; Jones, N.R.; Yang, L.; Brown, C.J. Mechanisms underlying the formation and enlargement of noncommunicating syringomyelia: Experimental studies. Neurosurg. Focus 2000, 8, E2. [Google Scholar] [CrossRef]
23. Van Der Veken, J.; Harding, M.; Hatami, S.; Agzarian, M.; Vrodos, N. Syringomyelia intermittens: Highlighting the complex pathophysiology of syringomyelia. Illustrative case. J. Neurosurg. Case Lessons 2021, 2, CASE21341. [Google Scholar] [CrossRef]
24. Klekamp, J. The pathophysiology of syringomyelia—Historical overview and current concept. Acta Neurochir. 2002, 144, 649–664. [Google Scholar] [CrossRef] [PubMed]
25. Parida, M.K.; Pattanaik, S.S.; Panda, A.K.; Das, B.K.; Tripathy, S.R. Charcot arthropathy of elbow due to syringomyelia: A case series and systematic review of literature. Clin. Rheumatol. 2023, 42, 261–268. [Google Scholar] [CrossRef] [PubMed]
26. Mohanty, S.P.; Kanhangad, M.P.; Saifuddin, S.; Kurup, J.K.N. Pattern of Syringomyelia in Presumed Idiopathic and Congenital Scoliosis. Asian Spine J. 2021, 15, 791–798. [Google Scholar] [CrossRef]
27. Mikhaylovskiy, M.; Stupak, V.; Belozerov, V.; Fomichev, N.; Lutsik, A.; Afanasyev, L.; Bondarenko, A.; Krutko, A.; Dolzhenko, D.; Zaidman, A.; et al. Progressive Scoliosis and Syringomyelia—Questions of Surgical Approach. Folia Medica 2018, 60, 261–269. [Google Scholar] [CrossRef]
28. Goel, A. Scoliosis and Syringomyelia. Neurol. India 2022, 70, 2192–2193. [Google Scholar] [CrossRef]
29. Williams, B. Orthopaedic features in the presentation of syringomyelia. J. Bone Jt. Surgery. Br. 1979, 61-B, 314–323. [Google Scholar] [CrossRef]
30. Klekamp, J. How should syringomyelia be defined and diagnosed? World Neurosurg. 2018, 111, e729–e745. [Google Scholar] [CrossRef]