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Practice Clinical updates

Chiari malformations: principles of diagnosis and management

BMJ 2019; 365 doi: https://doi.org/10.1136/bmj.l1159 (Published 08 April 2019) Cite this as: BMJ 2019;365:l1159
  1. Rory J Piper, academic clinical fellow and neurosurgical trainee1,
  2. Michael Pike, honorary consultant paediatric neurologist2,
  3. Richard Harrington, honorary senior clinical lecturer and general practitioner3,
  4. Shailendra A Magdum, consultant paediatric neurosurgeon1
  1. 1Department of Paediatric Neurosurgery, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK
  2. 2Department of Paediatric Neurology, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
  3. 3Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.
  1. Correspondence to: R J Piper rorypiper{at}doctors.org.uk

What you need to know

  • There are different types of Chiari malformation, but they generally share the feature of the hindbrain protruding through the foramen magnum and into the spinal canal

  • Chiari 1 malformation (CM1) is more common and typically presents in childhood or early adulthood with a combination of pain (headache, neck pain, or back pain), fatigue, poor memory, and neurological symptoms. Up to a quarter of patients have no symptoms

  • Suspect Chiari 2 malformation (CM2) in infants with myelomeningocele. It may be diagnosed antenatally on ultrasound scan. Around 1 in 5 children will have associated symptoms

  • Refer patients with a confirmed or suspected diagnosis to a neurosurgeon for further investigations and management

  • The key investigation is magnetic resonance imaging of the brain and whole spine. Lumbar puncture must not be performed in these patients

  • Offer support for long term follow-up and management of symptoms. Surgery may be considered in patients with significant or progressive symptoms

Chiari malformations are a heterogeneous group of hindbrain anomalies. Six different malformations are described. Most common are Chiari 1 malformation (CM1) and Chiari 2 malformation (CM2, also termed “Arnold-Chiari malformation”) and are the focus of this review.

These are rare conditions, but symptoms may impair quality of life in both adults and children,1 causing disruption to work or education and social exclusion. The diagnosis is often delayed or missed as symptoms may be mistaken for other neurological conditions or attributed as psychogenic.2 Not enough information or explanation from healthcare professionals3 can aggravate patients’ fears on being diagnosed. Although some patients improve after surgery, others experience lifelong symptoms, progression of deficits, need for re-operation, and complications.

Non-specialists can play an important role in early diagnosis and referral, counselling, and supporting long term care for these patients. In this clinical update, we summarise the definitions, epidemiology, and …

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