Congenital Spine Deformities

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Keywords: Congenital spine deformities, spinal anatomy, congenital abnormalities of the spine, scoliosis, spina bifida, spinal dysraphims, imaging of the spine, milwaukee brace, neural tube defect, physical examination spine, detection spine deformities

Definition/Description

Congenital deformities of the spine are spinal deformities identified at birth that are the result of anomalous vertebral development in the embryo. Minor bony malformations of all types occur in up to 12% of the general population and are usually not apparent. [1 [LOE:2C]] The spine is a complex and vital structure. Anatomically, a variety of tissue types are represented in the spine, including musculoskeletal and neural elements. Several embryologic steps must occur to result in the proper formation of both the musculoskeletal and neural elements of the spine. Alterations in these embryologic steps can result in congenital abnormalities of the spine. [31 [LOE:1A]] Based on the type of malformation, the resulting deformity and the specific region of the spine where the malformation occurs, these congenital malformations of the spine can be classified into three main groups [31 [LOE:1A]]:

1) When the neural tube fails to completely close during the embryonic development, we speak about a neural tube defect/deformities. [31 [LOE:1A]] The most common example is spina bifida. The term “spina bifida” merely refers to a defective fusion of posterior spinal bony elements, but is still incorrectly used to refer to spinal dysraphism in general, quoted in the book of BOOS N. and AEBI M. [7 [GOR: B + C]] So we can conclude that spina bifida aperta is certainly an open spinal dysraphism. This type of spina bifida is associated with meningocele or meningomyelocele [31[LOE:1A]] , but there are also other kinds of spinal dysraphisms, like the closed spinal dysraphisms for example Spina Bifida Occulta. [54 [LOE: 4]]

2) When two or more vertebrae fail to fully separate and divide with concomitant partial or complete loss of a growth plate, we speak about a failure of segmentation. Examples of this type of congenital spine deformity are congenital scoliosis, congenital kyphosis, congenital lordosis and Klippel-Feil syndrome. [31[LOE:1A]]

3) However, congenital scoliosis and congenital kyphosis, and congenital lordosis can also be examples of a failure of formation. This type of congenital spine deformity occurs as a result of an absence of a structural element of a vertebra. Typical observable defects are hemivertebrae or wedge vertebrae. [31[LOE:1A]] [24 [LOE:3B]]

Congenital abnormalities of the spine have a range of clinical presentations. Some congenital abnormalities may be benign, causing no spinal deformity and may remain undetected throughout a lifetime. Others may be associated with severe, progressive spinal deformity leading to cor pulmonale or even paraplegia. Some deformities will result in sagittal plane abnormalities, for example kyphosis or lordosis, whereas others will primarily affect the coronal plane, like Scoliosis. The resultant spinal deformity is often a complex, three-dimensional structure with differences in both the coronal and sagittal plane, along with a rotational component along the axis of the spine.[34 [LOE:3A]]

Clinically Relevant Anatomy

Neural tube deformities
Neural tube deformity is a term for congenital anomalies because of incomplete closure of the neural tube in the utero. [5[LOE:2C]] [59 [LOE:2A]] This causes impaired formation of structures along the craniospinal axis. [55 [LOE:2C]] Spinal neural tube defects can be subdivided into those that are open versus those that are closed:
● Open: the failure is primary neuralation. [4 [LOE:2A]] [44 [LOE:5]]
● Closed: the structural deformities are mostly limited to the spinal cord. [44 [LOE:5]]

However, it is not only the elements of the spine that can be affected. Other body organs that formed during the same embryonic stage can be affected as well. This is because [31 [LOE:1A]] the paraxial mesoderm is responsible for the formation of the vertebrae, whereas the other two areas of mesoderm (intermediate and lateral) are involved in the development of the urogenital, pulmonary and cardiac systems. [4 [LOE:2A]] Several studies referred to in a 2005 review [31 [LOE:1A]]have indicated a higher incidence of congenital heart defects, and many patients may have difficulty with respiration because of abnormal curvatures of the spine.
Another 2009 review [42 [LOE:2A]] noted that several authors observed that these associated anomalies have an influence on the progression of untreated congenital Scoliosis.

Failure of segmentation/ formation
The bony structure of the spine is determined in the first 6 weeks of intrauterine life, at the mesenchymal stage of embryonic development. Somites form and undergo a process of segmentation and recombination. This is necessary to give rise to the cartilaginous mould that afterwards will ossify to form the bony spine. Errors during this process can lead to either failure of formation, failure of segmentation or a combination of both. [22 [LOE:3A]]
Examples of failure of segmentation are:
● Congenital kyphosis
● Congenital Scoliosis
Examples of failure of formation are:
● Klippel-Feil syndrome [36 [LOE: 2A]]
● Congenital kyphosis
● Congenital Scoliosis
The anomaly is present at birth, so a curvature is noted much earlier than patients with idiopathic scoliosis. In addition, because of all the years of growth remaining, large deformities can result. [38 [LOE:2C]]

Epidemiology /Etiology

The etiology of congenital spine deformities varies greatly because there are different sorts of congenital spine deformities. It is difficult to indentify one factor that may be responsable. The prevalence is also different for each of them. [31 [LOE: 1A]]
They can be divided into 3 groups:

1) Neural tube deformities such as spina bifida. Spina bifida is not a very common disease. Scientist believe that spina bifida is caused during pregnancy due to a defiency of vitamin B. Spina bifida is also dependant on genetic and enviromental factors. Obese women with poorly controlled diabetes have a greater risk of having children with spina bifida. In America less than 1 in 1000 children are born with it each year. Having a child with spina bifida increases the chance that another child will also have spina bifida by 8 times [67 [LOE:5]] [23 [LOE:2A]] [9 [LOE:3A]] [39 [LOE:5]]

2) Congenital spine deformities due to failure of segmentation. In this case, the vertebrae are fused together and cause congenital kyphosis, congenital lordosis, and Scoliosis. [45 [LOE2B]]
Congenital Scoliosis is not the most common type of scoliosis as it only amounts to 15% of the total amount of scoliosis [19 [LOE:5]]. With 64% of the total amount of scoliosis, thoracic scoliosis is the most common congenital scoliosis. This is followed by thoracicolumabar scoliosis with 20% of the total amount of scoliosis, 11% of which are located in the lumbar region, and 5% in the lumbosacral region.[31 [LOE:1A]] According to Moore, the failure of segmentation? is due to the embryological absence of one or more of the primary chondrification centers [31: [LOE1A]]
Klippel-Feil syndrome is also due to a failure of segmentation. There is not much known about the prevalence of this syndrome, but according to Brown et al who reviewed 1400 skeletons from the Terry collection the prevalence was estimated at 0,71%. Another study from Gjorup reviewed all of the radiographic cervical spine films from a single hospital in Copenhagen. From these films, they determined an incidence of 0.2 cases per 1000 people. [61 [LOE:5]]

3) Congenital spine deformities due to failure of formation are rare. The prevalence of hemivertebrae is 0.33 out of 1000 births and there is an equal number of women and men affected. A 2005 study showed that 23 out of the 26 children with hemivertebrae developed a congenital spine deformity like scoliosis, congenital lordosis or congenital kyfosis. [24 [LOE:3B]]

A 2009 review concludes that environmental factors, genetic factors, vitamin deficiency, chemicals, and drugs, singly or in combination, have all been implicated in the development of congenital abnormalities during the embryonic period. Whatever the factor is that influences the embyo it must affect the embryo at a very early stage of development, before cartilage bone can develop. These defects can lead to a failure of segmentation or a failure of formation of the spine. [30 [LOE:2A]]
In another review of 2005, the studies carried out confirmed various possible causes that may help in the prevention of these anomalies. the studies showed that during critical stages of development, fetal exposure to thalidomide can lead to severe congenital malformations. A case report of Ghidini et al. suggests that mothers taking lovastatin have an increased risk for congenital abnormalities. In the same review Nora et al. conclude that certain progestin/estrogen compounds may increase the incidence of these anomalies. [31 [LOE:1A]]

Characteristics/Clinical Presentation

The 2005 review concludes that a defect early in fetal life may have a variety of clinical presentations. This is because of the fact that several systems develop from a common precursor. Examples of these clinical presentations are scoliosis, hyperlordosis and/or hyperkyphosis. Furthermore, this review also indicates that congenital abnormalities of the spine have the potential to affect the spinal cord and associated nerve roots. The neurological symptoms can vary from minor motor or sensory signs to paraplegia, depending on the type and severity of the congenital spine deformity. A 2007 review indicates that congenital spine deformities are not always immediately obvious at birth. They can present as a deformity with growth or with clinical signs of neurologic dysfunction during adolescence or adulthood.

Neural tube deformities
As described earlier, neural tube deformities can be divided into two groups:
● Open: neural elements and/ or membranes are exposed to the external environment
○ Myelomeningocele is characterised by
■ being most frequently present in the lumbosacral region [51 [LOE:2A]]
■ a bulging of a sac-like structure covered by a thin membrane with CSF that will drain if the sac is disrupted [53 [LOE:2A]]
○ Myelocele
■ Is associated with similar clinical implications as myelomeningocele but is flat [4 [LOE:2A]] [53 [LOE:2A]]
○ Hemimyelomeningocele
■ is a rare lesion
■ where the spinal cord has been divided by a bony spur with one segment open and the other closed [4 [LOE2A]]

● Closed: spinal abnormalities covered by skin
○ Some go undetected or remain asymptomatic [4 [LOE:2A]] [44 [LOE:5]] but there are variants that can be associated with cord tethering, subcutaneous mass or more severe spine abnormalities [4 [LOE:2A]]
○ The lumbosacral region is the most common location of these defects [55 [LOE:2C]]
○ An affected child has an intellectual function and other functions are as well less affected [44 [LOE:5]]
○ Lipomyelomeningocele and lipomyelocele
■ are characterised by subcutaneous fatty mass above the gluteal crease [53 [LOE:2A]]

Failure of segmentation
● Congenital scoliosis is charaterised by
○ a three-dimensional deformity involving lateral curvature and rotation
○ a benign prognosis
○ the fact that worst curves occur with unilateral defects
○ a curve site dependent on the location of apical vertebra [51 [LOE:2A]]
● Congenital kyphosis
○ Can progress rapidly and may cause spinal cord compression and paralysis [23 [LOE:3A]]

Failure of formation
● Congenital scoliosis
○ Poor prognosis [51 [LOE:2A]]
● Congenital kyphosis
○ Absence and asymmetry of the growth plates [50 [LOE:4]]
● Klippel-feil syndrome

Differential Diagnosis

Most of the congenital spine deformities are diagnosed in the uterus, and if not, at birth. That is because these deformities are most of the time clearly present at birth e.g. Spina Bifida, scoliosis etc. However some of the disorders might not become symptomatic until childhood or even adulthood. [54 [LOE:4]]

In these cases, the physician will carry out an MRI scans or use ultrasound to diagnose the specific disorder. [54 [LOE:4]] [57 [LOE: 4]] So for many congenital spine deformities there is not a differential diagnosis because the deformity/anomaly will be clear in the MRI scan. This is also the case because newborns cannot express which symptoms he experiences (like pain, or numbness).

Neural tube deformities
Spina bifida is an out-dated term for spinal dysraphism. This ‘modern term’ includes many congenital anomalies where the neural tube is defective, which leads to hernia’s of the meninges or other neural tissues. [62 [LOE:4]]
● open: with a non-skin covered back mass, where you have to differentiate between myeolecele and myelomeningocele.
● closed: with a skin-covered back mass, where you have to determine whether there is a subcutanuous mass present or not. [7 [GOR: B+C]] [54 [LOE:4]]

Failure of segmentation
Congenital scoliosis
In most of the severe cases, scoliosis can be detected without medical imaging. There are different forms that can be present as a result of failure of segmentation:
● A block vertebra, which is a bilateral failure with complete fusion of the disc between the involved vertebrae.
● A unilateral unsegmented bar has fused discs and facet joints on one side of the vertebral column. [7 [GOR: B+C]] [10 [LOE: 4]]

Congenital kyphosis
● idiopathic hyperkyphosis
● neuromuscular
● spinal cord tumor
● connective tissue disorders
● skeletal dysplasia
● infection (tuberculosis, pyogenic, fungal)
● tumor
● myelomeningocele
[7 [GOR:B+C]] [3 [GOR: C]]

Congenital spinal canal stenosis
The sagittal diameter must be <13 mm to speak of a congenital spinal canal stenosis. This disorder itself is not the cause of particular symptoms. It is the Spinal Canal Compression Syndrome that triggers the neural structures in the spinal canal, and because of the congenital narrowed spinal canal, these patients face a greater risk of developping the syndrome. Depending on the disease, there are differential diagnoses for the Spinal Canal Compression Syndrome at each level of the spine.
● Cervical: MS, Myelitis, B12 hypovitaminosis, spinal tumors, polyneuropathy (PNP), ateriovenous malformations.
● Thoracal: disc herniation (often calcified), OPLL, arteriovenous malformations, spinal tumors.
● Lumbar: vascular claudication, spinal metastasis, polyneuropathy. [7 [GOR:B+C]]

Failure of formation
Congenital scoliosis
As mentioned above there are different types of scoliosis. The following ones concern a failure of formation:
● A Hemivertebra, which is a complete unilateral failure of the vertebral formation that can be:
○ Fully segmented
○ Partially segmented
○ Non-segmented
A hemivertebra can be further described as incarnated or non-incarnated.
● A wedge vertebra is a partial unilateral failure. [7 [GOR: B+C]] [15 [LOE:4]]

Congenital kyphosis
● idem failure of segmentation

Klippel-Feil syndrome
● Congenital muscular torticollis [26 [LOE:3B]]
● Wildervanck syndrome
● MURCS association
● Turner or Noonan syndrome
● Morquio syndrome
● Tuberculosis of the cervical spine
● Nevoid basal cell nevus syndrome
● Crouzon syndrome
● Apert syndrome
● Binder syndrome
● Oculo-auriculo-vertebral spectrum [47 [LOE3B]]

Osteopetrosis
● Leukemia [60 [LOE: 4]]
● Dysosteosclerosis [63 [LOE:4]]

Diagnostic Procedures

There are several different procedures that can be used to carry out the imaging of the spine. The choice of imaging depends on what you want to analyse. For example bone analyses require other imaging techniques compared to those needed to analyse the spinal canal.
In children, it is important to start with the less invasive procedure because of their cartilage and non-ossified bones. So imaging in children is done with ultrasound. [57 [LOE:4]]
In adults, different types of imaging can be used depending on what needs to be analysed.

● X-Rays is used to show structural deformities such as hemivertebrae, butterfly vertebra, or incomplete fusion of posterior elements. X-ray is used if imaging of bones is needed and no imaging of the spinal cord is required. [2 [LOE:5]]For scoliosis, erect posterior-anterior frontal and/or lateral views (with breast shielding) are usually obtained. [49 [LOE:5]]

● MRI is most frequently used for imaging of the spine in adults. With MRIs the spinal canal and its content can be analysed. MRI uses energy from strong magnets to create pictures. MRI images are different for every sort of congenital spine deformity.
According to S. Basu et al., MRI and echocardiography should be an essential part in the evaluation of patients with congenital spinal deformity. [6 [LOE:4]]
To prove the degree of confidence of MRI, different studies have been done. A study of Brophy et al. performed MRI in 42 patients with spinal dysraphism. In 22 of these 42 patients, he also performed CT, pyelography, or surgical analyses. The findings of the MRI where corroborated. There were 3 false-positive MRI results for hydromyelia and no false-negative results. [8 [LOE:4]] In another study of Brophy et al. the MRI results from 25 patients with the diagnosis of lipomyelomeningocele and/or tethered cord were compared to the operative findings. The postoperative MRI results of 8 patient were also compared to the preoperative findings. There was one false negative result and 4 MRI results did not show a clear relationship between lipoma , canus and filum. [8 [LOE:4]]
Several studies [20 [LOE:5]] [17 [LOE: 2C]] [57 [LOE4]] [27 [LOE:5]]showed that the analysis of congenital spine deformities benefit from MRI. In addition, a CT scan is a good choice to evaluate congenital spinal deformities. [20 [LOE:5]]

● CT Scans continue to be the preferred method for the assessment of localised bony abnormalities, or a calcified component, of the spinal canal, foramina, neural arches, and articular structures.[49 [LOE 5]]

Outcome Measures

The following questionnaires are based on patients who underwent spinal surgery, as this is the most common treatment for congenital spine deformities.
● The Balanced Inventory for Spinal Disorders [58 [LOE:2C]]
● Owestry Disability Index [12 [LOE2A]] [16 [LOE:1A]] [7 [GOR:B+C]]
● The physical component summary [12 [LOE:2A]]
● The Short Form of the Medical Outcomes Study [12 [LOE:1A]] [7 [GOR: B+C]]
● Brief Pain Inventory [16 [LOE :1A]]
● Roland–Morris disability questionnaire [16 [LOE :1A]] [7 [GOR : B+C]]
● SRS-22 Questionnaire [21 [LOE:2C]]

Also see Outcome Measures Database

Examination

An inspection and a physical examination are required as usual [10 [LOE:2C]]. In the physical examination of a patient with kyphosis, different components should be included. Firstly, an analysis of the posture should be carried out. This may reveal gibbus deformity or a round back. Secondly, palpation should be carried out to feel for spinal abnormalities, and may identify that the tenderness of the paraspinal musculature, which is often the case. Thirdly, the range of motion during flexion, extension, lateral bending and spinal rotation of the back should be measures. This provides information on how far the patient can perform these different movements. Asymmetry can be noted too. The deformation is palpated during the examination of a range of motions to assess the flexibility or rigidity of the curve. Finally, the Adam’s forward bend test may reveal a thoracolumbar kyphosis. [56 [LOE:5]]
However a 2009 review [10 [LOE:2C]] also indicated that a complete neurologic evaluation should also be carried out to rule out the presence of intraspinal anomalies. Patients with congenital spondylolisthesis show deficits in their neurological examinations. [31 [LOE:1A]] A neurological evaluation includes an evaluation of pain, numbness, paresthesia like tingling, extremity sensation and motor function, muscle spasm, weakness, and bowel/bladder changes. [56 [LOE:5]]
According to Karachalios Theofilos et al., the Adam's forward bend test is not a safe diagnostic criterion for the early detection of scoliosis. The reason why is because of an unacceptable number of false-negative findings. This means that the test results come out negative when they should be positive. For early detection of scoliosis, the use of the combination of back-shape analysis methods is recommended. Methods of analysis of back surface shape is designed to present most of the numerical parameters needed to assess the progress of the disease as it affects body shape. Examples of these methods are rasterstereographic three-dimensional back surface analysis and reconstruction of the spine. This can be safely used with the introduction of cut-off limits for referral being a useful procedure. The use of the forward-bending test must be questioned according to Karachalios Theofilos et al., because the incidence of significant scoliosis is low. [32 [LOE:2A]]
In a study by Côté Pierre et al., where the diagnostic accuracy and reliability of the scoliometer and Adam’s forward bend test were examined, it was concluded that the scoliometer and the Adam’s forward bend test have an adequate interexaminer reliability for assessment of the thoracic curves. The scoliometer had a better interexaminer agreement in the lumbar spine compared with the Adam’s forward bend test. On the other hand, the scoliometer has a high level of interexaminer measurement error. This limits its use as an outcome instrument. The Adam’s forward band test is more sensitive compared to the scoliometer. Côté Pierre et al., consider that this test is the best noninvasive clinical test to evaluate scoleosis. [13 [LOE:2C]]
“Congenital scoliosis presents a major challenge to the physician as a result of the possibility of a wide variety of primary and secondary abnormalities. These abnormalities develop during fetal life, and thus treatment of these patients often necessitates numerous tests and thorough repetitive examination by the physician.” was stated in an article in the spine journal, 2005. [31 [LOE:1A]]
For the examination of spina bifida oculta, X-ray examination is the only valid test to confirm this type of neural tube defect . [31 [LOE:1A]]

Medical Management

A 2009 review found that the natural history, the character and location of the deformity ultimately influence the choice of treatment. [11 [LOE:2C]]Another 2009 review concluded that spinal instrumentation for congenital spine deformity cases is safe and effective. [28 [LOE:2A]] [29 [LOE:2B]]In addition, the growing rod surgery is found to be safe and effective in selected patients with congenital spinal deformities. [18 [LOE:4]] [65 [LOE:5]]The size and weight of the patient determines the size of spinal implants, whereas the surgical fixation anchors will be determined by the anatomy of the patient and the anomalies present. [28 [LOE:2A]] The complications associated with the use of this spinal instrumentation are infrequent and the curve correction, length of immobilisation and fusion rate is improved.[29 [LOE:2B]]

Growing rod surgery
Growing rod surgery is one of the options for the correction of scoliosis; this is a modern alternative treatment for young children with early onset scoliosis. Elsebai HB et al. focused on its use in progressive congenital spinal deformities. The incidence of complication remained relatively low. [18 [LOE:18]] [65 [LOE:5]] Also Yazici, Muharrem MD and Emans, John MD also recommend this technique for patients where the primary problem is at the vertebral column.

Expansion thoracostomy and VEPT
For severe congenital spine deformations, when large amount of growth remains, expansion thoracostomy and VEPTR, which is a curved metal rod designed for many uses, are the most appropriate choice. These methods are used when the primary problems involve the thoracic cage, for example when there are rib fusions or/and when developing Thoracic Insufficient Syndrome. [65 [LOE:5]]But the incidence of complications using VEPTR is relatively high. [46 [LOE:3A]]

Resection and fusion
For treatment of congenital scoliosis caused by hemivertebra posterior hemivertebra, resection and monosegmental fusion seems to be effective. This treatment results in an excellent correction in both the frontal and sagittal planes. [66 [LOE:4]]Early surgery is typically prescribed as a treatment for children with congenital scolisose, even though there is little evidence concerning its long term results. There are also no studies conducted to confirm the hypothesis that spinal fusion surgery for children with congenital scoliosis is an Evidence-Based treatment. In addition, there are conflicting data about the safety of hemivertebra resection and segmental fusion wich use pedicle screw fixation. [46 [LOE:3A]]

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