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Hans Chiari was a German pathologist who, between 1891 and 1896, described various anomalies of the caudal cerebellum and brain stem from post-mortem studies.
He first described an abnormality of elongated peg-like cerebellar tonsils that are displaced into the upper cervical canal through the foramen magnum. This is now called the Chiari type I malformation. Abnormalities of the skull and upper vertebrae are common in this type.
Five years later he reported a complex congenital malformation of the brain, nearly always associated with myelomeningocele. It is now called the Chiari type II, or Arnold-Chiari malformation. This condition includes downward displacement of the medulla, fourth ventricle and cerebellum into the cervical spinal canal, as well as elongation of the pons and fourth ventricle, probably due to a relatively small posterior fossa. About 25% have distension of the central or paracentral canal of the cervical spinal cord, causing hydromyelia or syringomyelia.
He also described a single case of cervical spina bifida with herniation of the cerebellum through the foramen magnum, now called Chiari III malformation.
Some authors have added a severe form of cerebellar hypoplasia without displacement of brain through the foramen magnum and called it Chiari IV malformation.
A case of acquired Chiari malformation secondary to skull hyperostosis has been described.
Chiari type I
Retrospective investigation of brain MRIs has found a prevalence of 1 in 1,280 individuals. It tends to present earlier if there is syringomyelia.
Chiari type II (Arnold-Chiari malformation)
Only found in association with myelomeningocele.
Chiari type I
The presentation of this condition depends upon the severity of the herniation and associated other features. The hydrodynamics of the cerebrospinal fluid (CSF) are upset, possibly causing caudal to cranial flow and this is a contributor to symptoms. A variety of symptoms can occur:
- Suboccipital headaches are common.
- Pain behind the eyes, visual disturbances, diplopia and photophobia can occur.
- Bilateral hearing loss has been reported.
- Dizziness, vertigo, disturbance of hearing and nystagmus may develop.
- Compression of the hindbrain can cause weakness, paraesthesia, ataxia, cranial nerve palsies, dysphagia, dysphasia, palpitations, syncope, apnoea and sudden death.
- Problems of the spinal cord present in about 95% of patients with syringomyelia and two thirds of those without it. Symptoms include central cord syndrome, impaired sensation, impaired motor control, gait disturbance, torticollis, bowel and/or bladder symptoms, neuropathic joints, trophic phenomena and pain.
- Various abnormalities of the skull and upper vertebrae are found in 25-50%.
Chiari type II
- This tends to present much earlier with significant morbidity and mortality in the neonatal period.
- A third of patients with meningomyelocele develop brain stem dysfunction by the age of 5 years and a third of these die in infancy.
- Cranial nerve and brain stem dysfunction are the most serious features.
- There are two types of presentation in type II. One involves infants and the other older children. Infants rarely present before a few weeks old but life is threatened by involvement of cranial nerves IX and X and compression of the respiratory centre.
Presentation in infancy
- Inspiratory stridor.
- Dysphagia or nasal regurgitation.
- Aspiration from bilateral abductor vocal cord paralysis or central neural dysfunction, or both.
- Respiratory distress.
- Episodes of apnoea.
- Weak cry.
- Opisthotonic posture.
Presentation in childhood or adolescence
- Spastic quadriparesis with upper motor neurone (UMN) features.
- Recurrent pneumonia from aspiration.
- Gradual loss of function.
Presentation of types III and IV have been ignored as they are much rarer.
- The investigation of choice is MRI.
- MRI now means that myelography is not required. Injection of a contrast and enhancing agent such as gadolinium may help to clarify the anatomical abnormalities.
- The use of cine MRI is sometimes necessary to elucidate whether an abnormality seen on static films is causing a significant physiological obstruction to CSF flow.
- Plain X-ray of the skull and cervical spine will show skeletal abnormalities like scoliosis.
- CT scan demonstrates caudal displacement of the fourth ventricle.
- Ultrasound scan:
All patients, whether they are suitable for surgery or not, should be considered for rehabilitative therapy and psychological support.
Chiari type I
The main issues to be determined in the management of a patient with a Chiari I malformation are:
- What is the anatomical malformation?
- What are the main disabling symptoms?
- How does the malformation relate to physical symptoms?
A decision on whether to proceed to surgery should be based on the following approach:
- A multidisciplinary assessment is helpful, with neurologists, neurosurgeons and rheumatologists all giving an opinion about the patient.
- A decision regarding surgery should be taken on reviewing these opinions together with the imaging results.
- Suboccipital craniectomy and upper cervical laminectomy to decompress the malformation at the foramen magnum are usually required with cord drainage and institution of drainage of the fourth ventricle, if necessary.
- Decompression of the foramen magnum gives good results in terms of arresting deterioration.
- A shunt is usually inserted in the presence of a large syrinx with or without hydrocephalus. However, endoscopic third ventriculostomy provides a suitable alternative. It may be effective as a primary treatment. Management of hydrocephalus alone is often sufficient and may obviate decompression, although a significant proportion of patients will still need both procedures.
- Patients most likely to benefit from surgery are those with reproducible neurological signs - eg, nystagmus, absent gag reflex, and demonstrably abnormal CSF flow in the hindbrain on cine MRI.
- Chiari-related syringomyelia can be treated successfully with surgery.
Chiari type II
Studies suggest that early surgery in type II malformation results in a better outcome. Prompt decompression of a meningomyelocele in patients under the age of 2 years can lead to a significant reduction in mortality and morbidity.
Some patients are asymptomatic and remain so for the length of their lives. There are reports of spontaneous resolution of Chiari type I.
The prognosis otherwise depends on severity of the malformation, associated neurological abnormalities and complications. There has been some improvement in prognosis with improved diagnostic and surgical techniques.
Further reading and references
; National Institute of Neurological Disorders and Stroke
; Chiari III malformation with hypertelorism and microcephaly in a neonate: Case report and a review of the literature. J Pediatr Neurosci 20083:169-71
; Acquired Chiari malformation secondary to hyperostosis of the skull: a case report and literature review. Surg Neurol. 2009 Aug72(2):157-61. Epub 2008 Jun 2.
; Online Mendelian Inheritance in Man (OMIM)
; Online Mendelian Inheritance in Man (OMIM)
; Chiari Type I malformation presenting with bilateral hearing loss. J Clin Neurosci. 2009 Sep16(9):1228-30. Epub 2009 Jun 4.
; Imaging of Chiari type I malformation and syringohydromyelia. Neurol Clin. 2014 Feb32(1):95-126. doi: 10.1016/j.ncl.2013.07.002.
; Relationship of cine phase-contrast magnetic resonance imaging with outcome after decompression for Chiari I malformations. Neurosurgery. 2006 Jul59(1):140-6
; Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester. J Matern Fetal Neonatal Med. 2009 Jul 1:1-3.
; Supratentorial abnormalities in the Chiari II malformation, II: tectal morphologic changes. J Ultrasound Med. 2009 Jan28(1):29-35.
; Initial management of hydrocephalus associated with Chiari malformation Type I-syringomyelia complex via endoscopic third ventriculostomy: an outcome analysis. J Neurosurg. 2008 Jun108(6):1211-4.
; Long-term follow-up of Chiari-related syringomyelia in adults: analysis of 157 surgically treated cases. Neurosurgery. 2009 Feb64(2):308-15
; Chiari Type II malformation: past, present, and future. Neurosurg Focus. 2004 Feb 1516(2):E5.
; Spontaneous resolution of Chiari type 1 malformation. A case report and literature review. Neuroradiol J. 2013 Jun26(3):304-9. Epub 2013 Jul 16.
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