29 Musculoskeletal Changes in Basilar Invagination
Several abnormalities of the neck and spine are associated with basilar invagination. Short neck, low hairline, web-shaped neck muscles, torticollis, reduction in the range of neck movements, and other physical variations have been described as hallmarks of basilar invagination. Several bone fusions and deformities and platybasia have also been recorded. Neck pain, muscle spasms, and restriction of neck movements are frequently recognized and suggest potential instability of the region.
In 1912, Maurice Klippel and André Feil discussed a triad of observations of extensive cervical vertebral fusions in a 46-year-old patient with a short neck, low hairline, and restricted neck movements. This combination of symptoms, labeled the Klippel-Feil triad, is commonly used synonymously with basilar invagination. Several authors have commented on the importance of external appearance in identifying anomalies of the craniovertebral junction.1 The general understanding is that musculoskeletal features, such as a short neck and bony variations, are the result of embryonic dysgenesis and are the primary abnormalities that lead to odontoid compression on the craniocervical cord.
We have speculated that basilar invagination is secondary to abnormally inclined alignment of the facets of the atlas and axis.2,3 The progressive slippage of the atlas over the axis secondary to this malalignment, a process that is similar to spondylolisthesis seen in the lumbosacral spine, results in invagination of the odontoid process into the craniocervical cord.3,4 The abnormal inclination of the facets of the atlas and axis appears to be the result of congenital malformation of the bones. It is also possible that this inclination is due to acquired causes, such as neck muscle weakness during early infancy, trauma to the neck during inappropriate delivery practices, and inability to spontaneously correct these deformities due to weakness of the muscles at the nape of the neck due to protein/calorie malnutrition. The progressive nature of the anomaly of basilar invagination has been alluded to by other authors.5
We recently studied 170 patients with group I basilar invagination, treated with atlantoaxial joint distraction in our department.6 We analyzed the physical and radiological changes that occur in these patients following surgery.
Our analysis revealed that odontoid compression of the cord is the primary event and that all musculoskeletal alterations are secondary protective mechanisms of the body aimed at reducing the effect of neural compression. All of these secondary physical abnormalities are reversible following surgery that involves decompression of the cord and stabilization of the region. Essentially, it appears that these abnormalities are not a result of embryonic dysgenesis and are only secondary adaptive changes.
Clinical Features
Patients with basilar invagination have several physical changes, such as reduced neck size, torticollis, and exaggerated lordosis of the cervical spine, as well as reduced craniospinal angulation. These patients usually present with neck pain, weakness of extremities, paresthesias, hoarseness of voice, nasal regurgitation, and bowel/bladder symptoms.
In the majority of cases, there is a history of moderate to severe trauma prior to the onset of symptoms. In most cases, the patient or his or her family had noticed the patient’s short neck since early childhood. Although some degree of torticollis is also present since early childhood, this symptom is exaggerated after trauma or after the onset of clinical neurological symptoms.
Our patients’ ages, clinical features, and duration of symptoms are summarized in Table 29.1. 6
Physical and Radiological Parameters
Computed tomography (CT), magnetic resonance imaging (MRI), and dynamic radiography are the main imaging technologies used with these patients.
In most patients, imaging shows evidence of reduced disk space height, significant posterior cervical osteophyte formation, assimilation of the atlas, single- or multiple- level cervical fusions, and an increase in the spinal subarachnoid space both above and below the level of maximum neural compression at the tip of the odontoid process.
The landmarks used for measurements of various indices were based on a review of original work by Van Gilder et al.7 and those used in our earlier studies.6,8 They are shown in Figs. 29.1, 29.2, and 29.3.
Craniovertebral Height
The craniovertebral height is measured by a modification of the Klaus posterior fossa height index ( Fig 29.1 ).8,9 A line is drawn from the tuberculum sellae to the torcula. From the midpoint of this, a line is drawn that connects to the midpoint of the inferior surface of the body of C5. Care is taken to select the images that are in a neutral neck position. C5 is selected to assess the lower limit of the neck, as in a significant percentage of our cases, the investigations did not show the C6 and C7 vertebrae.
Total no. of patients | 170 |
Age (y) | |
0–10 | 8 |
11–20 | 48 |
21–30 | 58 |
31–40 | 40 |
41–50 | 12 |
>50 | 4 |
Duration of symptoms | |
0–6 mo | 62 |
6–12 mo | 28 |
13–24 mo | 26 |
25–36 mo | 18 |
37–48 mo | 21 |
49–60 mo | 0 |
61 mo–15 y | 15 |
Presenting symptoms | |
Neck pain | 110 |
Paresthesias | 62 |
Weakness | 170 |
Hoarseness of voice or nasal regurgitation | 14 |
Bladder or bowel disturbance | 41 |
Sensations | |
Normal sensations | 55 |
Only posterior column | 35 |
Only spinothalamic tract | 18 |
Posterior column and spinothalamic tract | 62 |
Cervical Height
The cervical height is measured by a line drawn from the tip of the odontoid process to the midpoint of the base of C5 ( Fig. 29.1 ).
Cervical Lordosis
Cervical lordosis is measured by a modification of the omega angle ( Fig. 29.2 ).8,9 The line of the hard palate is taken as a fixed line parameter, and a parallel line is drawn to it that passes from the center of the base of C3. The angle of the odontoid process is measured on this line. The base of C3 is selected instead of C2, as discussed by us elsewhere,8 because in several cases there are C2–C3 fusions.
Craniocervical Angle
On a lateral radiograph, a line is drawn along the clivus corresponding to the Wackenheim clival line ( Fig. 29.3 ).10 Another line is drawn along the posterior surface of C2–C3. The angle between these two lines is identified as the craniovertebral angle.7
Measurements are made on all three forms of investigation (plain radiographs, CT, and MRI) and are then averaged. Because stainless steel metal implants are used in the majority of our cases for fixation, postoperative MRI was not possible.
Neck size is assessed by two parameters. A line is drawn from the inion to the tip of the spinous process of C7. Another line is drawn from the angle of the mandible to the medial end of the clavicle. Both measurements are done in a neutral neck position.6
Abnormality | No. of Patients (N = 170) |
Partial or complete assimilation of atlas | 123 |
Fusion | |
C2–C3 | 44 |
C3–C4 | 3 |
C4–C5 | 3 |
C3–C4–C5 | 5 |
Osteophytes | |
C2–C3 | 12 |
C3–C4 | 18 |
C4–C5 | 6 |
Chiari malformation | 28 |
Syringomyelia | 25 |
Clinical photographs help in assessing the alterations in the degree of torticollis.6
Table 29.2 lists the various abnormalities that were observed on imaging, and Tables 29.3, 29.4, and 29.5 show the various postoperative changes in the parameters assessed in our patients.6 Figures 29.4, 29.5, and 29.6 illustrate the various musculoskeletal changes associated with basilar invagination. On MRI, in addition to the features observed in Table 29.2, large and dilated subarachnoid spaces were observed anterior to the cord both above and below the point of maximum neural compression at the tip of the odontoid process in at least 66% of cases ( Figs. 29.4a and 29.5b ). Although there were spondylotic bone changes, neural compression by the osteophytes was not prominent because of the presence of “buffering” by enlarged subarachnoid spaces.6
Reduced neck size has been considered diagnostic of basilar invagination. In our series, partial or complete fusion of the vertebral bodies appeared to be directly related to long-standing reduction of the disk space height. This feature was apparent by the range of reduction of the disk space height in these cases. Spondylotic changes with formation of osteophytes indenting into the cervical subarachnoid space at multiple levels are observed in these patients. These “spondylotic” changes are disproportionately more common when related to patients’ ages. Misdiagnosis of cervical spondylotic disease and erroneous treatment for cervical osteophytes are possible in such cases.11 The spondylotic changes are more marked and prominent at the level of C2–C3, or in cases where there is C2–C3 fusion, at the level of C3–C4. Fusions are also more prominently observed both above (partial or complete assimilation of the atlas) and below (C2–C3 fusion) the point of maximum neural compression at the tip of the odontoid process. The anterior subarachnoid space is remarkably dilated both above and below the point of maximal neural compression by the odontoid process.
Change in Height (cm) | Number of Patients (N = 41) |
0–1 | 15 |
1–2 | 10 |
2–3 | 12 |
3–4 | 3 |
4–5 | 1 |