Spina bifida occulta in the thoracic spine is rare, has specific aspects on X-ray and CT scan, and round cortical edge in the thoracic spine is highly suggestive of thoracic spina bifida occulta.
Dr. Sinan Kara, Department of Orthopedics, IRIS South Hospital Group, Brussels, Belgium. E-mail: dr.karasinan@gmail.com
Introduction: Spina bifida is a neural tube defect and the incidence in the thoracic region is extremely rare. We reported an incidental finding of thoracic spina bifida occulta at the first thoracic vertebra following a sport-related injury.
Case Report: A 28-year-old male presented to our emergency department; the patient complained of middle thoracic back pain without any sensory-motor deficits after a fall during a football game. An X-ray and a thoracic computed tomography (CT) scan were performed and highlighted an incomplete fusion of the Th1 spinous process and lamina. A follow-up magnetic resonance imaging (MRI) performed a few months after diagnosis showed no underlying associated complications.
Conclusion: This case report highlights a rare instance of thoracic spina bifida occulta at the TH1 vertebra. This case was initially misdiagnosed, and through radiographic, CT, and MRI findings, the report contributes valuable insights for radiologists, orthopedic surgeons, neurologists, and neurosurgeons about spina bifida occulta.
Keywords: Spina bifida, spinous process, TH1, vertebra, magnetic resonance imaging.
Spina bifida is a neural tube defect characterized by incomplete closure of structures surrounding the spinal cord. While this malformation most commonly affects the lumbosacral region, it can rarely involve other spinal segments, such as the thoracic region. Spina bifida occulta (closed spinal dysraphism) accounts for approximately 10–15% of spinal malformations [1], but its incidence in the thoracic region is extremely rare, with a prevalence of <0.5% [2, 3]. We reported an incidental finding of thoracic spina bifida occulta at the first thoracic vertebra (Th1) following a sport-related injury.
A 28-year-old male presented to our emergency department after a fall during a football game without head trauma. On clinical examination, the patient was conscious (Glasgow coma scale: 15), hemodynamically stable, and complained of middle thoracic back pain without any sensory-motor deficits. Antero-posterior chest X-ray imaging (Fig. 1) revealed an oblique, well-corticated, round-edge defect on the Th1 spinous process mimicking a fracture. A thoracic CT scan with 3D reconstruction was performed (Figs. 2 and 3) and highlighted an incomplete fusion of the Th1 spinous process and lamina, presenting as a purely bony anomaly without associated complications consistent with thoracic spina bifida occulta diagnosis. The patient was then discharged with rest, and painkillers were further referred to our spine unit department.
According to his normal neurological and musculoskeletal clinical examination, we confirmed post-traumatic axial pain uncorrelated to the incidental spina bifida occulta detection. The patient was treated with physiotherapy and gentle osteopathic therapy for the axial pain, which led to gradual pain relief. A follow-up magnetic resonance imaging (MRI) performed 1 year following the diagnosis of spina bifida occulta (Fig. 4) showed no underlying associated disease such as Chiari malformation or tethered cord and confirmed the unfused Th1 spinous process filled with fibrosis (Table 1).
Congenital spinal anomalies are relatively common, particularly in the cervical and lumbar regions, but rare in the thoracic region. These anomalies can be broadly categorized into congenital malformations and acquired deformities [4]. Spina bifida occulta is a benign form of the condition (closed spinal dysraphism), characterized by a fusion failure of the posterior spinal elements without involvement of the spinal cord or meninges. It is most frequently found in the lumbosacral region [5, 6] and accounts for 10–15% of spinal malformations. However, thoracic involvement is exceedingly rare. Failure of neural tube closure occurs early in embryonic development and can be influenced by environmental, genetic, toxic, dietary (e.g., folate deficiency), and metabolic factors. Incomplete fusion of the vertebral lamina at this stage results in spinal dysraphism, including spina bifida, and the incidence of closing neural tube defects during pregnancy has been estimated to be between 4% and 5% [7]. A literature review using PubMed revealed very few reported cases of thoracic spina bifida. Levy and Freed (1972) [8] reported thoracic spina bifida at Th1 in 0.01% of asymptomatic patients examined by X-ray. Manenti et al. [9] and Mirzaei et al. [10] reported a similar case of Th1 spina bifida occulta, but no MRI was performed. Thoracic spina bifida occulta is usually asymptomatic and has a good prognosis, but in rare cases, it may be associated with back pain, spinal instability, or neurological symptoms. Complications can include tethered cord syndrome or progressive deformities if undiagnosed. Regular follow-up with imaging is recommended, especially if symptoms develop. Patients should maintain good spinal health through posture management and physical therapy if needed. In the present case, we describe an incidental finding of an asymptomatic thoracic spina bifida occulta following trauma. Although this form of the anomaly is benign, it may be associated with other alformations, such as tethered spinal or Chiari malformation, necessitating radiological follow-up, particularly with MRI. Spina bifida occulta is a benign form, often asymptomatic with a favorable prognosis. Complications are rare but may include lower back pain or neurogical symptoms in the presence of associated anomalies. Regular medical follow-up is recommended to monitor any changes. Most patients lead a normal life. Our report contributes to the literature by including follow-up MRI data, which excludes any underlying complications and adds valuable radiological insights.
Clinical recommendations
- MRI should be performed after the initial diagnosis to rule out associated disease (Chiari malformation and tethered cord)
- 3D CT reconstruction imaging is warranted
- Annual clinical assessments should be recommended for patients with associated thoracic anomalies or spinal deformities.
Spina bifida occulta is a congenital defect caused by incomplete fusion of the vertebral lamina without spinal cord or meningeal involvement. We reported a rare case of incidental Th1 thoracic spina bifida occulta. Due to its uncommon location, the condition was initially misdiagnosed as a fracture on X-ray imaging but successfully diagnosed on CT-scan and 3D reconstruction. By presenting detailed radiographic, CT, and MRI findings, this report adds to the limited body of literature on thoracic spina bifida and provides useful clinical insights for clinicians encountering similar cases.
Thoracic spina bifida occulta is a rare congenital defect that can be misdiagnosed as a fracture on X-ray; this case highlights the importance of CT and 3D imaging for accurate diagnosis and contributes to the limited literature on this condition.
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