What are the symptoms of Chiari malformation?

Symptoms of Chiari Malformation

The most common symptoms of Chiari malformation include occipital or neck pain exacerbated by Valsalva maneuvers, peripheral motor and sensory defects, clumsiness, hyporeflexia or hyperreflexia, respiratory irregularities, central apneas, and lower cranial nerve dysfunction. 1

Common Neurological Symptoms

Chiari malformation, particularly type 1 (CM1), presents with a characteristic pattern of symptoms resulting from compression of the lower brainstem and upper cervical cord:

• Headache and Pain

  • Occipital/neck pain that worsens with Valsalva maneuvers (coughing, sneezing)
  • Short-lasting occipital "cough" headache 2
  • Pain may radiate to the shoulders and upper extremities

• Motor and Sensory Symptoms

  • Peripheral motor and sensory defects 1
  • Muscle weakness (reported in 32% of patients) 2
  • Sensory disturbances (reported in 48% of patients) 2
  • Clumsiness and coordination problems
  • Ataxia and tremor that may increase with age 1

• Autonomic and Cranial Nerve Dysfunction

  • Autonomic disorders (35% of patients) 2
  • Cranial nerve deficits (45% of patients) 2
  • Dizziness and vertigo
  • Lower cranial nerve dysfunction 1

Age-Specific Presentations

The presentation of Chiari malformation varies by age:

• Children under 3 years:

  • Oropharyngeal symptoms predominate 1
  • Sleep apnea
  • Feeding problems
  • Respiratory irregularities 1

• Children over 3 years and adults:

  • Higher incidence of cough headache 1
  • Scoliosis 1
  • Neck pain
  • Neurological deficits

Associated Conditions and Complications

Chiari malformation can be associated with several conditions that may contribute to the symptom profile:

• Syringomyelia

  • Present in 25-50% of children with CM1 1
  • Present in 35-75% of pediatric patients 2
  • Can cause additional myelopathy symptoms including:
    • Sensory disturbances
    • Motor weakness
    • Autonomic disorders 2

• Musculoskeletal Issues

  • Scoliosis (reported in 18% of patients) 1
  • Lordosis and kyphosis 1
  • Joint contractures in older children and adults 1

• Other Associated Symptoms

  • Dysphagia (difficulty swallowing) 3
  • Syncope (fainting) 1
  • Gait impairment 2

Diagnostic Considerations

When evaluating for Chiari malformation, certain symptoms should prompt further investigation:

• Symptoms of headache, dizziness, and dysphagia should prompt consideration of neurological referral for evaluation of Chiari malformation 1

• A complete evaluation with fundoscopy and brain or skull imaging is recommended in any patient presenting with clinical symptoms of intracranial hypertension, lower brainstem compression, or compression of the upper cervical cord 1

• MRI is the imaging modality of choice, particularly with sagittal T2-weighted sequences of the craniocervical junction 1

Clinical Pitfalls and Caveats

• Many patients with radiographic evidence of Chiari malformation may be asymptomatic 1

• Symptoms can be multifactorial, and patients may report a wide variety of non-specific symptoms 2

• Chiari malformation can be associated with other conditions like craniosynostosis, which may have overlapping symptoms 1

• The presence of syringomyelia may alter the clinical presentation and typically indicates a more severe form of the condition 2

• Headache in Chiari malformation patients is often multifactorial and may not always be directly related to the malformation itself 4

Understanding these symptoms is crucial for early diagnosis and appropriate management of Chiari malformation to prevent progression and improve quality of life.