Tethered cervical cord syndrome: A rare entity – a case report and literature review

Abstract

Background:

Tethered cord syndrome typically occurs in the lumbosacral spine, with rare instances of cervical cord tethering. This case presents the first documented adult female with cervical cord tethering and a dermal sinus tract in Pakistan, an uncommon congenital anomaly typically identified in infancy.

Case Description:

A 32-year-old female with a history of spina bifida cystica presented with upper back pain, neck pain, and hand paresthesia. Magnetic resonance imaging (MRI) revealed tethering at the cervical spine, with a dermal sinus tract and dorsal meningocele. The patient underwent surgical detethering and excision of the dermal sinus tract under general anesthesia, and postoperative follow-up was conducted to assess neurological recovery. MRI confirmed cervical cord tethering, with associated abnormalities including a dermal sinus tract extending from C1 to D7, and focal syrinx formation. The patient’s symptoms improved postsurgery, with no new neurological deficits observed.

Conclusion:

Cervical tethered cord with a dermal sinus tract is an exceedingly rare condition, particularly in adults. Early diagnosis and surgical intervention can lead to significant improvement, even in the absence of motor deficits. This case highlights the importance of timely management, even in asymptomatic or mildly symptomatic presentations, to prevent long-term neurological damage. Given the prevalence of spinal dysraphisms in South Asia, including Pakistan, raising awareness about congenital spinal anomalies is essential for early detection and intervention.

INTRODUCTION

Spinal cord tethering is a common phenomenon in the lumbosacral spine; however, only a few cases of tethering at the cervical region have been reported which may be associated with trauma, iatrogenic injury, spinal cord infections, and congenital malformations.[2,6,11,12,17,20,22,25]

The incidence of tethered cord syndrome (TCS) is not fully understood; however, it has been estimated at 0.25/1000 live births.[14]

A systematic review in India showed that an overall birth prevalence of neural tube defects was estimated at 4.1/1,000 births (95% confidence interval [CI]: 3.1–5.4). Anencephaly was the most commonly reported neural tube defect, with a prevalence of 2.1/1,000 births (95% CI: 1.6–2.8), followed by spina bifida, which had a prevalence of 1.9/1,000 births (95% CI: 1.4–2.7).[7]

In South Asia, particularly in Pakistan and India, there is a higher incidence of spinal dysraphism due to genetic predisposition, consanguinity, and nutritional deficiencies, notably folate deficiency during pregnancy.

Spinal dysraphisms like dermal sinus tracts result from incomplete disunion of epithelial and neuroectoderm, resulting in a persistent epithelial tract connecting the skin to deep tissue.[13] These are usually associated with spinal cord tethering at the lumbosacral region; rarely, this may occur at the cervical region due to the entrance of a dermal sinus into the subarachnoid space and blending with spinal cord elements.[3,10,12,18,24] Presentation in adults is extremely rare, as these congenital anomalies are usually identified at birth. To the best of our knowledge, this is the first documented case of cervical cord tethering with a dermal sinus tract in an adult female from Pakistan, a rare and underreported congenital anomaly. While similar cases have been described in the literature, this report uniquely highlights the diagnostic and surgical challenges faced in a resource-limited setting where routine neonatal screening and early neurosurgical care are less accessible. By presenting this case, we aim to raise awareness of congenital spinal anomalies among clinicians practicing in comparable environments and emphasize the importance of vigilance in recognizing atypical presentations of spinal dysraphisms, thereby contributing to global understanding and facilitating earlier diagnosis and intervention in underserved populations. To the best of our knowledge, this report presents the first documented case of cervical cord tethering with a dermal sinus in an adult female from Pakistan.

METHODS

This case was presented at the Department of Neurosurgery in a tertiary care hospital in Pakistan and documented as a unique instance of congenital tethered cervical cord associated with a dermal sinus tract and spina bifida cystica. Data were retrospectively extracted from the patient’s medical records, including clinical presentation, imaging findings, surgical details, and postoperative outcomes.

Magnetic resonance imaging (MRI) findings were reviewed to confirm the diagnosis. In addition, to assess for coexistent spinal anomalies, an MRI of the entire spine was performed and reviewed, which confirmed the absence of additional spinal anomalies. The patient underwent surgical detethering and excision of the dermal sinus tract under general anesthesia. However, intraoperative photographs were unavailable due to institutional data archiving protocols and patient privacy considerations, which we acknowledge as a limitation of this report. Follow-up data were collected to assess neurological recovery and surgical outcomes.

Patient privacy and data confidentiality were strictly maintained, ensuring that no identifiable personal information was disclosed at any stage. All ethical considerations were meticulously followed in accordance with institutional guidelines, safeguarding the patient’s rights, dignity, and anonymity throughout the study.

CASE DESCRIPTION

A 32-year-old female, a known case of spina bifida cystica, presented in October 2024 at the Department of Neurosurgery in a tertiary care hospital in Pakistan with the complaint of upper back pain radiating to the left shoulder, neck pain, and bilateral hand paresthesia for 6 months. The patient had a congenital depression in the lower cervical spine. Before that, there were no prior systemic symptoms indicating the disorder. Neurological examination revealed no motor deficits, and muscle power was 5/5 in all extremities along with a Glasgow Coma Scale of 15/15.

MRI [Figure 1] revealed straightening of the cervical spine with loss of normal lordosis. An unfused posterior element of D1 vertebra was identified, along with a linear T2 hyperintense structure, likely representing tethered nerve roots adherent to the posterior cervical cord at C7-D1. These nerve roots extended posteriorly through a bony defect into the subcutaneous tissues, forming a dermal sinus tract with an associated dorsal meningocele and focal syrinx at C6-C7. No evidence of Chiari malformation was noted. In addition, MRI of the entire spine [Figure 2] was obtained to rule out any coexistent spinal anomalies, and no additional abnormalities were identified outside the cervical region.

Figure 1:

Dilated central canal (thin green arrow) with focal bony defect and a dermal sinus at C7-D1 level (thick white arrows) along with adherent nerve roots (thin orange arrow).

Figure 2:

Magnetic resonance (MR) imaging of the whole spine, including MR myelogram and T2-weighted sagittal sequences, demonstrating no additional spinal anomalies beyond the cervical tethered cord (orange arrow) and dermal sinus tract(thick white arrow). The images show normal thoracic and lumbar spine anatomy, ruling out coexistent spinal anomalies that could contribute to the patient’s symptoms.

Several differential diagnoses were considered, including arachnoiditis due to the presence of enhancement, syringomyelia given the 4 cm diameter of the central canal, Arnold–Chiari malformation due to low-lying tonsils, and a neurenteric cyst, characterized as an oval, nonenhancing lesion with cerebrospinal fluid signal intensity. However, the diagnosis of cervical TCS was confirmed based on a bony defect and the presence of adherent nerve roots beneath it.

The patient underwent surgical detethering of the lower cervical and upper dorsal tethered cord with excision of the dermal sinus under general anesthesia. A curvilinear incision was made around the dermal sinus at the level of C1-D7, extending into the bifid D1 spinous process, reaching the dura. The sinus tract was traced to the cervical cord and found to contain nerve roots, necessitating complete excision.

Postoperatively, the patient recovered well, with resolution of pain and sensory symptoms. No new neurological deficits were observed.

DISCUSSION

TCS is a neurological disorder characterized by abnormal spinal cord attachment, resulting in excessive stretching and progressive neurological decline. Although TCS primarily affects the lumbosacral region, cervical cord tethering is exceptionally rare. Its clinical presentation varies widely, ranging from mild pain and sensory disturbances to severe motor deficits and bowel/bladder dysfunction. Early diagnosis and timely surgical intervention are essential to prevent permanent neurological impairment. This report presents a rare case of cervical cord tethering with a dermal sinus tract in an adult female, contributing to the limited literature on this condition. Congenital cervical cord tethering in adulthood remains largely undocumented, making this case particularly unique in the Pakistani context.

Globally, TCS is more commonly diagnosed in pediatric populations due to early symptom onset and routine screening. In a study involving a sample of 3,682 patients, the mean age of pediatric presentation was found to be 5.8 years.[8] However,[8] in resource-limited settings like Pakistan, late diagnoses are more frequent due to limited access to neonatal screening and neurosurgical expertise. A study from Mardan, Pakistan, involving 50 adults with adult-onset TCS, reported a mean age of 32.64 ± 4.8 years (range: 18–70 years).[4] Similarly, our patient was asymptomatic till 32 years of age. One possible explanation for this delayed presentation is the lack of routine neonatal screening for spinal dysraphism in Pakistan. In resource-limited settings, access to early diagnostic imaging and neurosurgical expertise is often restricted, leading to underreporting of such cases. In addition, it has been suggested that repetitive movements in the presence of an immobile spinal cord lead to ischemic insults and mitochondrial dysfunction, resulting in neuronal damage.[25,28] Furthermore, South Asian populations exhibit a higher incidence of neural tube defects due to genetic predisposition, consanguinity,[21] and nutritional deficiencies, particularly folate deficiency.[27] This suggests that similar congenital anomalies are present but remain undiagnosed until the manifestation of symptoms.

The patient presented with upper back pain radiating to the left shoulder, neck pain, and bilateral hand paresthesia without any motor deficits. This presentation contrasts with most previously reported cases, where symptoms typically include progressive motor weakness, gait disturbances, and bowel or bladder dysfunction.[1,5,9,23] The absence of motor impairment in our case might be attributed to a less severe degree of tethering or a compensatory adaptation over time. While most congenital cervical TCS cases present in infancy or childhood, the late onset of symptoms in our patient suggests a progressive traction on the cord or late secondary changes such as syrinx formation, as observed on MRI.

MRI findings in this case demonstrated straightening of the cervical spine, an unfused posterior element of the D1 vertebra, a dermal sinus tract extending to the cervical cord, and a focal syrinx. In previously reported cases, cervical TCS is often associated with Chiari malformations, hydromyelia, or fibrous bands tethering the cord.[26,29] The absence of a Chiari malformation in our case suggests that the tethering process is isolated rather than part of a complex congenital syndrome, which may also explain the milder clinical presentation. In addition, the presence of a dorsal meningocele further distinguishes this case, as meningocele formations are more commonly associated with lumbosacral rather than cervical TCS.[16] MRI[16] remains the gold standard for imaging spinal and paraspinal anomalies in neonates and infants. However, advances in high-frequency ultrasonography have significantly improved its diagnostic accuracy, making it comparable to MRI in certain cases. Ultrasound offers advantages such as affordability, wide availability, and the absence of sedation or motion-related artifacts. In newborns, the cartilaginous spinal arches provide an acoustic window for ultrasound, but their utility declines with age due to ossification. In early infancy, sonography remains a reliable tool for detecting spinal anomalies with high resolution.[19] Consequently, in low- and middle-income countries like Pakistan, ultrasound can serve as a cost-effective method for early detection of spinal cord defects, enabling timely intervention and comprehensive neonatal screening.

The standard treatment for TCS involves surgical detethering to prevent neurological deterioration. In our case, the excision of the dermal sinus and detethering of the cervical cord led to complete symptom resolution with no new neurological deficits. This aligns with prior reports where surgical intervention resulted in significant symptom relief and halted the progression of neurological decline.[15] However, the surgical approach in our case was more extensive due to the presence of an elongated dermal sinus extending from C1 to D7, requiring meticulous dissection to prevent cord damage. The favorable postoperative outcome highlights the effectiveness of early surgical intervention, emphasizing that even asymptomatic or mildly symptomatic cases benefit from proactive management to prevent irreversible deficits. Therefore, early surgical treatment of dermal sinus-associated tethered cord is recommended to avoid neurological deterioration.

Intraoperative photographs were unavailable due to institutional data archiving protocols and patient privacy considerations, which we acknowledge as a limitation of this report.

CONCLUSION

This case report highlights the rare occurrence of cervical cord tethering associated with a dermal sinus in an adult female, contributing to the limited literature on this condition, particularly within the Pakistani context. The case underscores the importance of considering TCS in adults, even when symptoms are mild or atypical. Timely diagnosis using MRI and surgical intervention is crucial for preventing neurological deterioration, as evidenced by the patient’s favorable postoperative outcome. The findings also emphasize the need for greater awareness and early screening for spinal dysraphism, particularly in resource-limited settings where delayed diagnoses are common. Early treatment is a key to preventing irreversible neurological deficits in symptomatic patients, as evidenced by this case, while a watchful approach with regular neurophysiological studies, imaging assessments, and thorough clinical examinations is essential for monitoring asymptomatic or mildly symptomatic patients. This dual strategy ensures timely detection of progressive changes, guides the decision for surgical intervention, and helps optimize patient outcomes, particularly in rare cases of cervical TCS, where the timing and natural history remain incompletely understood. Early surgical treatment is a key to preventing irreversible neurological deficits, even in seemingly asymptomatic or mildly symptomatic cases. This case serves as a reminder of the necessity for prompt recognition and management of congenital spinal anomalies to optimize patient outcomes.

Ethical approval:

The Institutional review board has waived ethical approval for this study.

Declaration of patient consent:

The authors certify that they have obtained all appropriate patient consent.

Financial support and sponsorship:

Nil.

Conflicts of interest:

There are no conflicts of interest.

Use of artificial intelligence (AI)-assisted technology for manuscript preparation:

The authors confirm that there was no use of artificial intelligence (AI)-assisted technology for assisting in the writing or editing of the manuscript and no images were manipulated using AI.

Disclaimer

The views and opinions expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the Journal or its management. The information contained in this article should not be considered to be medical advice; patients should consult their own physicians for advice as to their specific medical needs.