From the Guidelines
The primary symptoms of Chiari malformation include occipital or neck pain exacerbated by Valsalva maneuvers, peripheral motor and/or sensory defects, clumsiness, hyporeflexia or hyperreflexia, respiratory irregularities, and central apnoeas, as well as lower cranial nerve dysfunction. These symptoms can vary greatly between individuals, and some people with Chiari may be asymptomatic 1. The symptoms are often related to the compression of the lower brainstem and upper cervical cord, which can lead to syringomyelia requiring surgical correction. It's essential to note that Chiari type 1 malformation is detected in 25–50% of children with X-linked hypophosphatemia (XLH) by use of cranial MRI or CT, and most cases are asymptomatic 1.
Some of the key symptoms to look out for include:
- Occipital or neck pain exacerbated by Valsalva maneuvers
- Peripheral motor and/or sensory defects
- Clumsiness
- Hyporeflexia or hyperreflexia
- Respiratory irregularities
- Central apnoeas
- Lower cranial nerve dysfunction
If you experience persistent headaches or any combination of these symptoms, especially if they worsen with physical exertion, it's crucial to consult a neurologist for evaluation. Early diagnosis and treatment can help manage symptoms and prevent potential complications. A noncontrast MRI scan of the brain, including a sagittal T2-weighted sequence of the cranio-cervical junction, is the study of choice for diagnosing Chiari I deformity 1.
From the Research
Symptoms of Chiari Malformation
The symptoms of Chiari malformation can vary, but common complaints include:
- Headache, often worsening with Valsalva maneuver 2, 3, 4
- Dizziness 2
- Numbness 2
- Ataxia, or loss of coordination 2
- Weakness, particularly in the arms and legs 2, 5
- Visual symptoms, such as:
- Nystagmus, or abnormal eye movements 4
- Downbeat nystagmus, which worsens in certain gaze directions 4
- Trouble with choking on food and drink 4
- Neck pain 5
- Occipital headache 5
- Upper extremity numbness and weakness 5
- Gait abnormality 5
- Lumbar pain 6
- Heaviness in the lower limbs 6
- Balance problems 6
- Difficulty walking 6
Less Common Symptoms
Some patients may experience less common symptoms, such as:
- Hemiparesis, or weakness on one side of the body 2
- Pseudotumor cerebri, a condition characterized by increased intracranial pressure and symptoms such as headache and visual disturbances 3
- Syringomyelia, a condition in which a fluid-filled cavity forms within the spinal cord, leading to symptoms such as numbness, weakness, and loss of coordination 2, 5