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Chiari Malformation Type I (CMI)

Chiari Malformation Type I (CMI) is an abnormality of the cranio-cervical junction, characterized by the descent of a portion of the cerebellum (the cerebellar tonsils) through the lower opening of the skull into the spinal canal. It is classified as a rare disease, and its incidence in the general population is not well known.
This abnormal position of the cerebellar tonsils causes an obstruction to the normal flow of cerebrospinal fluid (CSF) between the brain and spinal cord. As a result of this blockage, pressure increases within the brain, cerebellum, and spinal cord. The clinical symptoms and signs are therefore due to this obstruction.

The diagnostic test that provides the most detailed anatomical information about CMI is Magnetic Resonance Imaging (MRI). It should be noted that, quite often, during a brain MRI performed for other reasons (such as a head injury), the descent of the cerebellar tonsils may be detected.
However, the radiological finding alone is never sufficient to establish a diagnosis of CMI. The most important part of the diagnostic process is taking a detailed clinical history and performing a neurological examination, which, together with MRI findings, lead to an accurate diagnosis.

The most typical symptom of CMI is headache, usually located in the occipital and/or sub-occipital regions, lasting from hours to days. It can be triggered by coughing, physical exertion, strong abdominal muscle contraction, or neck flexion. Headache is often associated with symptoms or signs of dysfunction in the brainstem, cerebellum, and/or cervical spinal cord.
In patients with more advanced cases, sleep-related breathing disorders, difficulty swallowing, vocal cord paralysis, decreased facial sensitivity, and problems with motor coordination may be observed.

As mentioned above, the diagnostic process must include a thorough clinical history, a detailed clinical examination, and an MRI of both the brain and spinal cord. Only in patients where there is a clear correlation between clinical symptoms and radiological findings should surgical treatment be considered.

The surgical treatment that has produced the best clinical results in recent decades is Posterior Fossa Decompression (PFD). A detailed description of this technique is provided below.

CMI and Syringomyelia (SM)

Syringomyelia (SM) is a chronic disease of the spinal cord that mainly affects adults (aged 30–40 years) and is characterized by the presence of one or more cavities (syrinxes) within the spinal cord. The disease prevalence is estimated at 8.4 per 100,000.

SM may develop as a consequence of other conditions affecting the spinal cord — such as spinal tumors, post-traumatic myelopathy, or spinal and meningeal infections — or it may occur in idiopathic form (without a known cause).

However, the most frequent cause of syringomyelia is Chiari Malformation Type I. The mechanism linking these two conditions is again related to the obstruction of CSF flow between the brain and spinal cord. The resulting increase in pressure forces CSF to enter the spinal cord, forming cavities within it.

Syringomyelia can sometimes be discovered incidentally during a spinal MRI performed for other reasons, as it may be present in individuals who have no symptoms at all.
Likewise, when CMI is diagnosed, an MRI of the spinal cord should always be performed.

In symptomatic patients, onset usually occurs with sensory disturbances throughout the body — ranging from loss of pain or temperature sensation to increased sensitivity to stimuli.
During neurological examination, an inability to distinguish between hot and cold is often an early and characteristic sign, which can lead to burns and skin ulcers.
If SM progresses, it can cause tetraparesis/paraplegia and bladder and sexual dysfunction, leading to a complete loss of independence.

For diagnosis, MRI and neurophysiological tests are required — these are techniques that detect abnormalities in the transmission of electrical impulses through the spinal cord and peripheral nerves.

It is also essential to rule out the coexistence of other malformations or pathologies of the cranio-cervical junction, which may favor the descent of the cerebellar tonsils but require different surgical treatments.

If a person is found to have CMI with syringomyelia but has no symptoms, the recommended approach is close follow-up, with periodic neurological or neurosurgical examinations and repeat MRI scans.

If symptoms are already present, the patient will be offered surgical treatment, which consists of the same procedure performed for CMI without syringomyelia.

Surgical Procedure

Once the surgical indication has been established, the patient undergoes pre-admission testing, during which all necessary examinations and anesthesiological evaluations are carried out to rule out any risks related to general anesthesia.
This phase usually takes one morning, after which the patient may return home.

The patient is then admitted to the hospital the afternoon before surgery. Upon admission, the nursing staff provides instructions regarding preoperative hygiene, fasting, and medication management.

The surgery is performed with the patient in the prone position (face down).
The surgical incision is located below the hairline at the back of the head, and in patients with normal body build, the incision can be quite small.
At our center, we make every effort to apply minimally invasive and microsurgical techniques to ensure smaller incisions, reduced postoperative pain, and a lower risk of CSF leakage (cerebrospinal fluid escaping through the surgical wound).

Typically, the patient can begin mobilization the day after surgery without the use of a cervical collar. However, this varies depending on the patient’s preoperative neurological condition and individual pain threshold.
Postoperative pain at the wound site — related to muscle incision — is common but usually subsides within a few days. Postoperative pain management is carefully supervised by the anesthesiology team.

In the rare event of CSF leakage from the wound, a spinal drain may be placed via lumbar puncture. This allows the wound to close completely, after which the drain is removed.
If the wound does not heal properly, a second surgical procedure may be required to reseal the dura mater.

The average hospital stay is around six days, although this may vary based on individual factors.

Depending on preoperative symptoms and postoperative recovery speed, the patient may be discharged home or transferred to another hospital for neuro-motor rehabilitation.

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