New Link Between Chiari Malformation and Connective Tissue Disorders

Posted November 28th, 2007 by Matt

Spine Cervical

In this study, patients with Chiari malformation type I (CM-I) who had failed results from surgery were examined carefully. The authors found a link between Chiari malformation and hereditary disorders of connective tissue (HDCT).

Chiari malformation is the herniation (downward movement) of the cerebellar tonsils (lower brain). The tonsils move down through the opening at the base of the skull. This opening is called the foramen magnum.

The most common HDCT are Ehlers-Danlos syndrome and Marfan syndrome. Both of these conditions have a variety of signs and symptoms caused by a defect in the connective tissue.

Each patient with failed outcomes from surgery to correct the Chiari malformation had many tests and measures performed. These included information on family history, physical exam, and MRI of the cervical spine (neck).

Some patients had other tests as well. CT scans, barium swallow, sleep monitoring, and cardiac tests were some of the tests performed. A special cervical traction test was done if cranio-cervical instability was suspected. The cranium is the skull and the cranio-cervical junction (CCJ) is where the skull and first vertebra meet. X-rays and CT scans of the CCJ also helped identify instability in this area.

Because connective tissue was involved, joint mobility and tissue fragility were also measured. Excessive joint motion called hypermobility is common with HDCT. Easy bruising, poor tissue healing, and thin scars are common with fragile tissues.

After studying the data, the authors report that 35 per cent of the patients with CM who had a failed surgery also had HDCT. Patients with combined CM and HDCT were more likely to have symptoms of lower brainstem dysfunction.

This included nausea, difficulty swallowing, and throat tightness. Other symptoms such as shortness of breath, facial pain, and double vision were also reported. Some patients had heart palpitations and fainting spells.

The authors report this is the first time CM-I has been linked with HDCT. Patients with both conditions are more likely to have hypermobility of the upper cervical spine. This extra movement causes an unstable spine and allows greater herniation of the cerebellar tonsils.

Patients with CM-I undergoing surgery to stabilize the cervical spine should be tested for HDCT before the operation is done. This helps the surgeon plan the type of surgery and follow-up care to avoid complications.

Thomas H. Milhorat, MD, et al. Syndrome of Occipitalatlantoaxial Hypermobility, Cranial Settling, and Chiari Malformation Type I in Patients with Hereditary Disorders of Connective Tissue. In Journal of Neurosurgery: Spine. December 2007. Vol. 7. No. 6. Pp. 601-609.

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