Congenital spinal malformations

What is a congenital spinal malformation?

Congenital spinal malformations are conditions that are present from birth and affect the structure and shape of the spine.

The spine is the bony column that protects the spinal cord. These malformations can vary in severity and can affect one or more vertebrae, as well as different regions of the spine.

What are spinal malformations?

Congenital malformations of the spine can manifest in different ways and symptoms can vary depending on the severity of the malformation. They are conditions that can have a significant impact on patients’ lives, but with early diagnosis and proper treatment, many patients can have a good resolution and quality of life.

Some of the most common include:

1. Congenital scoliosis: This is an irregular curve in the spine that is present from birth and may be caused by malformation of the vertebrae during foetal development. Congenital scoliosis can vary in severity and may affect one or several vertebrae. It can cause a visible deformity of the back and lead to symptoms such as back pain, postural imbalance and impaired respiratory and cardiac function in severe cases.
2. Hemivertebrae: These are malformations in which only one half of a vertebra develops instead of a complete vertebra, which can cause asymmetry in the spine.
3. Vertebral dysplasia: A malformation in which the vertebrae do not form correctly during foetal development, which can cause deformities in the shape and structure of the spine. This can lead to scoliosis or vertebral hypoplasia.
4. Klippel-Feil Syndrome: A condition in which two or more cervical vertebrae fuse abnormally during foetal development, which can result in a short, stiff spine. This can cause limitations in neck movement and neurological symptoms in severe cases.
5. Meningocele and myelomeningocele: These are malformations in which the protective layers of the spinal cord (meninges) protrude through an opening in the spinal column, which can cause spinal deformities, neurological disorders and problems with bowel and bladder function.

It is important to note that these are just some of the most common congenital spinal malformations, and that there are other less common conditions that can also affect the structure and shape of the spine. Each case is unique and requires individualised diagnosis and treatment by a spine specialist.

What are the symptoms of congenital spinal malformation?

Some of the most common symptoms of congenital spinal malformation include visible back deformities, such as an irregular curve in the spine (
scoliosis
), a hump in the back (
kyphosis
), or a short, curved spine(vertebral hypoplasia). Neurological alterations may also occur, such as weakness or lack of sensation in the lower extremities, alterations in bowel or bladder function, and even difficulty breathing in severe cases.

How is a congenital spinal malformation diagnosed?

The diagnosis of congenital spinal malformations is usually made by a combination of clinical examination, radiographs and more advanced imaging tests, such as magnetic resonance imaging (MRI) or computed tomography (CT). These studies allow the spine specialist to evaluate the structure and shape of the spine and detect any abnormalities.

What is the treatment of congenital spinal malformation?

Treatment of congenital spinal malformations depends on the severity of the malformation and the patient’s symptoms. In some cases, the malformations may be mild and require no treatment, while in other more severe cases, treatment may be necessary to correct the deformity and improve neurological function. The main treatments include:

1. Observation and follow-up: In some mild cases, an observation and follow-up strategy may be chosen, where the patient is monitored regularly to assess the progression of the malformation and symptoms.
2. Conservative management: This may include physical therapy, use of orthopedic devices such as braces or splints, and medications to control pain or inflammation.
3. Surgery: In more severe cases, surgery may be necessary to correct the deformity and improve neurological function.
   This may involve procedures such as correction of the scoliosis by placement of metal implants (instrumentation) and fusion of the affected vertebrae.
   In some cases, decompression of the spinal cord may also be necessary to relieve pressure on the nerves.

It is important to keep in mind that treatment must be individualized and tailored to the specific needs of each patient, and must be performed by specialists with experience in the management of congenital spinal malformations.

At BSI – Spine Institute we can guide and advise your case in a personalized way, with years of experience and specialization in complex spine pathologies.