Diagnosis
A doctor will base his or her diagnosis on the symptoms the patient has and the results of tests, including:
- An X-ray
- Magnetic resonance imaging (MRI), which usually provides the most information
- Computed tomography (CT) scan [2]
| Basilar invagination | |
|---|---|
| Specialty | Neurology |
Basilar invagination is invagination (infolding) of the base of the skull that occurs when the top of the C2 vertebra migrates upward. It can cause narrowing of the foramen magnum (the opening in the skull where the spinal cord passes through to the brain). It also may press on the lower brainstem. [1]
This is similar to Chiari malformation. That, however, is usually present at birth.
Symptoms vary depending on whether the spinal cord, brain stem, nerves, or blood supply is affected by the pressure.[ citation needed ]
Symptoms become apparent when the neck is bent. They include:[ citation needed ]
Complications from this can include hydrocephalus, pseudotumor cerebri or syringomyelia because it blocks the flow of fluid around the brain and spinal cord.
Basilar invagination can be present at birth. If the condition develops after birth, it is usually the result of injury or diseases. If due to injury, about half the time it is caused by vehicle or bicycle accidents; 25% of the time by falls and 10% of the time by recreational activities such as diving accidents.[ citation needed ]
It also occurs in patients with bone diseases, such as osteomalacia, rheumatoid arthritis, Paget's disease, Ehlers–Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta.[ citation needed ]
A doctor will base his or her diagnosis on the symptoms the patient has and the results of tests, including:
If there are no neurological symptoms (such as difficulties moving, loss of sensation, confusion, etc.) and there is no evidence of pressure on the spinal cord, a conservative approach may be taken such as:[ citation needed ]
If there is pressure on the spinal cord or life-threatening symptoms are present, surgery is recommended.
Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. Often, syringomyelia is used as a generic term before an etiology is determined. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in loss of feeling, paralysis, weakness, and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands. It may also lead to a cape-like bilateral loss of pain and temperature sensation along the upper chest and arms. The combination of symptoms varies from one patient to another depending on the location of the syrinx within the spinal cord, as well as its extent.
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current classification, with a 14th type discovered in 2018. Symptoms include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum. CMs can cause headaches, difficulty swallowing, vomiting, dizziness, neck pain, unsteady gait, poor hand coordination, numbness and tingling of the hands and feet, and speech problems. Less often, people may experience ringing or buzzing in the ears, weakness, slow heart rhythm, or fast heart rhythm, curvature of the spine (scoliosis) related to spinal cord impairment, abnormal breathing, such as central sleep apnea, characterized by periods of breathing cessation during sleep, and, in severe cases, paralysis.
Paresthesia is an abnormal sensation of the skin with no apparent physical cause. Paresthesia may be transient or chronic, and may have any of dozens of possible underlying causes. Paresthesias are usually painless and can occur anywhere on the body, but most commonly occur in the arms and legs.
In neuroanatomy, dura mater is a thick membrane made of dense irregular connective tissue that surrounds the brain and spinal cord. It is the outermost of the three layers of membrane called the meninges that protect the central nervous system. The other two meningeal layers are the arachnoid mater and the pia mater. It envelops the arachnoid mater, which is responsible for keeping in the cerebrospinal fluid. It is derived primarily from the neural crest cell population, with postnatal contributions of the paraxial mesoderm.
Cervical spine disorders are illnesses that affect the cervical spine, which is made up of the upper first seven vertebrae, encasing and shielding the spinal cord. This fragment of the spine starts from the region above the shoulder blades and ends by supporting and connecting the skull.
Brain herniation is a potentially deadly side effect of very high pressure within the skull that occurs when a part of the brain is squeezed across structures within the skull. The brain can shift across such structures as the falx cerebri, the tentorium cerebelli, and even through the foramen magnum. Herniation can be caused by a number of factors that cause a mass effect and increase intracranial pressure (ICP): these include traumatic brain injury, intracranial hemorrhage, or brain tumor.
The central canal is the cerebrospinal fluid-filled space that runs through the spinal cord. The central canal lies below and is connected to the ventricular system of the brain, from which it receives cerebrospinal fluid, and shares the same ependymal lining. The central canal helps to transport nutrients to the spinal cord as well as protect it by cushioning the impact of a force when the spine is affected.
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections also can occur in arteries other than the aorta. Because aneurysms in children tend to rupture early, children are at greater risk for dying if the syndrome is not identified. Surgery to repair aortic aneurysms is essential for treatment.
A syrinx is a rare, fluid-filled neuroglial cavity within the spinal cord (syringomyelia), in the brain stem (syringobulbia), or in the nerves of the elbow, usually in a young age.
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), occult, dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.
Central cord syndrome (CCS) is the most common form of cervical spinal cord injury. It is characterized by loss of motion and sensation in arms and hands. It usually results from trauma which causes damage to the neck, leading to major injury to the central corticospinal tract of the spinal cord. The syndrome is more common in people over the age of 50 because osteoarthritis in the neck region causes weakening of the vertebrae. CCS most frequently occurs among older persons with cervical spondylosis, however, it also may occur in younger individuals.
Diastematomyelia is a congenital disorder in which a part of the spinal cord is split, usually at the level of the upper lumbar vertebra in the longitudinal (sagittal) direction. Females are affected much more commonly than males. This condition occurs in the presence of an osseous, cartilaginous or fibrous septum in the central portion of the spinal canal which then produces a complete or incomplete sagittal division of the spinal cord into two hemicords. When the split does not reunite distally to the spur, the condition is referred to as diplomyelia, which is true duplication of the spinal cord.
A cerebrospinal fluid leak is a medical condition where the cerebrospinal fluid (CSF) surrounding the brain or spinal cord leaks out of one or more holes or tears in the dura mater. A cerebrospinal fluid leak can be either cranial or spinal, and these are two different disorders. A spinal CSF leak can be caused by one or more meningeal diverticula or CSF-venous fistulas not associated with an epidural leak.
Spinal disease refers to a condition impairing the backbone. These include various diseases of the back or spine ("dorso-"), such as kyphosis. Dorsalgia refers to back pain. Some other spinal diseases include spinal muscular atrophy, ankylosing spondylitis, lumbar spinal stenosis, spina bifida, spinal tumors, osteoporosis and cauda equina syndrome.
The Chiari Institute is a medical institution that focuses on the treatment of Arnold–Chiari malformation and syringomyelia. It was established in 2001 by the North Shore-LIJ Health System, and is located in Great Neck, New York. The Institute was founded by Thomas H. Milhorat, MD shortly after he was appointed the Chairman of Neurosurgery at the North Shore-Long Island Jewish Health System, and Paolo Bolognese, MD. It is now led by Raj Narayan, MD. Paolo Bolognese left TCI on September, 1st, 2014
Spinal stenosis is an abnormal narrowing of the spinal canal or neural foramen that results in pressure on the spinal cord or nerve roots. Symptoms may include pain, numbness, or weakness in the arms or legs. Symptoms are typically gradual in onset and improve with leaning forward. Severe symptoms may include loss of bladder control, loss of bowel control, or sexual dysfunction.
Chiari-like malformation (CM) the most common cause of foramen magnum obstruction and syringomyelia in dogs. Syringomyelia (SM) is a disease of the spinal cord typified by fluid filled cavities, or syrinxes, within the spinal cord substance but it can cause pain by disrupting the cerebrospinal fluid (CSF), in the brain CM is a condition characterized by the mismatch of size between the brain and the skull. CM is very widespread in many Toy breed dogs and has been studied in the Cavalier King Charles Spaniel and the Griffon Bruxellois and Chihuahua. As many as 95% of Cavalier King Charles Spaniels may have CM. It is worldwide in scope and not limited to any country, breeding line, or kennel, and experts report that it is believed to be inherited CM is so widespread in the Cavalier that it may be an inherent part of the CKCS's breed standard. This disease not only affects thousands of dogs, but a similar condition affects over three hundred thousand children yearly. Therefore, canines are an appropriate model for the treatment of the human condition.
Cervicocranial syndrome or is a neurological illness. It is a combination of symptoms that are caused by an abnormality in the neck. The bones of the neck that are affected are cervical vertebrae. This syndrome can be identified by confirming cervical bone shifts, collapsed cervical bones or misalignment of the cervical bone leading to improper functioning of cervical spinal nerves. Cervicocranial syndrome is either congenital or acquired. Some examples of diseases that could result in cervicocranial syndrome are Chiari disease, Klippel-Feil malformation osteoarthritis, and trauma. Treatment options include neck braces, pain medication and surgery. The quality of life for individuals suffering from CCJ syndrome can improve through surgery.
Craniocervical instability is a medical condition where there is excessive movement of the vertebrae at the atlanto-occipital joint and the atlanto-axial joint, that is, between the skull and the top two vertebrae. This can cause neuronal injury and compression of nearby structures including the spinal cord, brain stem, vertebral artery or vagus nerve, causing a constellation of symptoms. It is frequently co-morbid with atlanto-axial instability, Chiari malformation and tethered cord syndrome.