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Chiari II malformation

Dr Abhilash Sandhyala and Dr Jeremy Jones et al.

A Chiari II malformation is a relatively common congenital malformation of the spine and posterior fossa characterised by lumbosacral spina bifida aperta / myelomeningocoele and a small posterior fossa with descent of the brain stem. Numerous associated abnormalities are also frequently encountered.  

Epidemiology

Chiari II malformations are encountered relatively commonly with an incidence of ~ 1 : 1000 live births 7. When a child is born with a myelomeningocoele the vast majority (~ 95%) have an associated Chiari II malformation. 

Clinical presentation

Given the wide range of anatomical severity as well as the large number of associated abnormalities which are sometimes encountered, it should be no surprise that the clinical presentation of patients with Chiari II malformations is also varied both in character and severity. One can divide the presentation according to the age of the individual (although most will have life long sequelae) as follows 7:

  • neonatal
    • myelomeningocoele
    • brainstem dysfunction resulting in cranial nerve palsies etc...
    • neurogenic bladder
  • child
    • musculoskeletal 
    • hydrocephalus
  • young adult
    • syrinx and scoliosis
Associations

Pathology

The malformation is characterised by a displacement of the medulla, fourth ventricle and cerebellum through the foramen magnum likely a result of a small posterior fossa. 

Radiographic features

Antenatal ultrasound

Classical signs described on ultrasound include:

There may also be evidence of foetal ventriculomegaly due to obstructive effects as a result of downward cerebellar herniation. Additionally many of the associated malformations (e.g. corpus callosal dysgenesis) may be identified. 

MRI

MRI is the modality of choice for detecting and characterising the full constellation of findings associated with Chiari II malformations. The key features are discussed below, whereas the wide range of associated abnormalities (see above) are discussed separately. 

Posterior fossa
  • small posterior fossa with a low attachment of the tentorium and low torcula
  • the brainstem appears 'pulled' down with an elongated and low lying fourth ventricle
  • the tectal plate appears beaked: inferior colliculus is elongated and points posteriorly, with resulting angulation of the aqueduct which results in aqueductal stenosis and hydrocephalus
  • cerebellar tonsils and vermis are displaced inferiorly through foramen magnum which appears crowded
Spine

Treatment and prognosis

Treatment of patients with Chiari II malformations is complex due to the variety and variable severity of malformations. 

  • myelomeningocoele repair and management of neurogenic bladder
  • ventricular shunting (usually ventriculoperitoneal) 
    • hydrocephalus usually requires shunting and can help ameliorate cranial nerve and brainstem dysfunction
  • craniovertebral decompression:
    • may also be required in neonates which brainstem dysfunction if hydrocephalus is not present or symptoms and signs do not improve with shunting
    • older patients with hind brain herniation or syringohydromyelia may also benefit

Etymology

The Chiari malformations were first described in 1891 by Hans Chiari : Austrian pathologist (1851 - 1916), see article on Chiari malformations for further details. 

Differential diagnosis

The differential is predominantly one of definition, and the term Chiari type II is often inappropriately used to designate a variety of malformations. Provided both a myelomeningocoele and brainstem descent are present the diagnosis is usually straight forward 7. 

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