The term "congenital scoliosis" refers to a spinal deformity caused by vertebrae that are not properly formed. By definition this deformity is present at birth - but in reality the seedings / cause of the deformity is seen at birth, but the deformity really progresses as the child grows going up
The vertebral anomaly occurs very early in the foetal development in utero; in the first six weeks of embryonic formation. Congenital scoliosis does not seem to run in families. Genetic studies to date have not yielded much evidence that this condition can be inherited. Although congenital scoliosis is often discovered during the infant or toddler period, in some children it does not get diagnosed until their adolescent years.
Pediatric spine surgeons describe congenital spinal anomalies based on which part of the vertebra is malformed or connected. Depending on the structure of the anomaly, the child may exhibit scoliosis (a curve to the right or left), kyphosis (round back), or lordosis (sway back). However, not all congenital anomalies fit neatly into these categories. There are often elements of more than one deformity, particularly scoliosis and kyphosis occurring together (Figure1). The bony anomalies can often be accompanied by anomaly of the spinal cord - also in various patterns
Pediatric spine surgeons may refer to the spine anomaly as a "failure of segmentation." This means that the abnormal vertebrae did not separate properly – or one or more vertebrae are abnormally connected together on one side. This connection will slow growth on that side of the spine. This leads to an asymmetry in growth - Unopposed growth on one side with slowed growth on the other - leading to a spinal deformity.
- "Failure of formation," is another common type of congenital problem, means that the normal shape of the vertebra is disrupted . "
- Failure of segmentation" means that the abnormal vertebrae did not separate properly.
On the x-ray these vertebra will look like triangles instead of rectangles. However, X-rays only show a two-dimensional representation of what is really a three-dimensional problem. Hence, the abnormally shaped vertebra may cause a wedge in the front, back, or either side, or a combination, tilting the spine at that level. These abnormally formed or abnormally separated vertebrae worsen in shape as the spine grows. Hence Pediatric spine surgeons often use descriptive terminology to designate how much growth potential may be likely in the congenital anomaly. The term "fully segmented" indicates that the abnormally shaped bone has full growth potential – so will contribute significantly in progressive spinal deformity there is a growth plate and a disk on both the top and bottom of the abnormal vertebra. "Semi-segmented hemi vertebrae" and have a disk and growth plate either above or below. "Non-segmented hemi vertebrae" in that order, are less likely to grow and hence will worsen less with growth are fused to the vertebra above and below. Since non-segmented hemi vertebrae have no growth plates, the curves they cause are much less likely to progress than those due to semi-segmented hemi vertebrae, which are less likely to progress than a fully segmented hemi vertebra. A "block vertebra" means that there is a missing disk space. Block vertebrae essentially has no growth potential and therefore rarely cause a progressive deformity.
Often, congenital anomalies in the vertebrae can be diagnosed on pre natal ultrasounds. Here the patient and the doctors can proactively investigate soon after the birth of the child, in other cases, the abnormality can be missed as the spinal deformity may not be apparent at birth.
An X-rays is the first investigation done to look for congenital scoliosis. Xrays along with clinical evaluation remain the basic data that the treating doctor would go by.
MRI scans along with abdominal ultrasound and an echo-cardiogram for the heart are mandatory to look for associated nerve, kidney or heart anomalies. However these are usually done after the child is a bit older. The three-dimensional structure of the congenital anomaly may be best visualized on a CT scan with reconstruction (this study is usually done as part of a preoperative planning) (Figure 4). The child's limbs should be examined for any musculoskeletal abnormalities, such as a clubfoot or malformed hand/arm.
• Used to evaluate spinal cord and brain • Often recommend in cases of congenital scoliosis • No radiation • May require sedation or anesthetic in young children
In children younger than 3 months (before the vertebrae ossify and harden), an ultrasound examination can scan the spinal cord for abnormalities without the need for sedation.children with congenital scoliosis have a 25% chance of having an anomaly in the urologic system (kidneys, bladder) or a 10% chance in the cardiac system.
• Used to evaluate kidneys and heart • Kidneys and heart develop at the same time as the spine and ultrasound can look for abnormalities
• High quality bone imaging • Large radiation dose • Usually done for pre-operative planning
Add the two figures with CT Scan image example
When your child's congenital spine anomaly is first diagnosed, no one will know exactly how much the spine deformity will progress as the child grows. Hence close observation remains a key part of management There are some clues, however. Anomalies in the thoracic spine tend to worsen with growth of the patient. Multiple fully-segmented hemi vertebrae on the same side of the spine also tend to progress with growth. A hemi vertebra opposite a set of fused vertebrae is the most likely combination to progress as the child grows. Because the most rapid period of spinal growth is in the first 5 years of life, and then at adolescence, at around 10 years, these are the two times when the congenital curvature must be monitored most closely.