Arnold–Chiari malformation
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| Arnold-Chiari | |
|---|---|
| Classification and external resources | |
 A T1-weighted sagittal MRI scan, from a patient with an Arnold-Chiari malformation, demonstrating tonsillar herniation of 7mm | |
| ICD-10 | Q07.0 |
| ICD-9 | 741.0 |
| OMIM | 207950 |
| DiseasesDB | 899 |
| MeSH | D001139 |
Contents[hide] |
[edit] Classification
The Austrian pathologist Hans Chiari in the late 19th century described seemingly related anomalies of the hindbrain, the so called Chiari malformations I, II and III. Later, other investigators added a fourth (Chiari IV) malformation. The scale of severity is rated I - IV, with IV being the most severe. Types III and IV are very rare.[4]| Type | Presentation | Other notes |
|---|---|---|
| I | A congenital malformation. Is generally asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Herniation of cerebellar tonsils.[5][6] | The most common form. |
| Syndrome of occipitoatlantoaxial hypermobility | An acquired Chiari I Malformation in patients with hereditary disorders of connective tissue.[7] Patients who exhibit extreme joint hypermobility and connective tissue weakness as a result of Ehlers-Danlos syndrome or Marfan Syndrome are susceptible to instabilities of the craniocervical junction and thus acquiring a Chiari Malformation. This type is difficult to diagnose and treat.[8] | |
| II | Usually accompanied by a lumbar myelomeningocele[9] leading to partial or complete paralysis below the spinal defect. As opposed to the less pronounced tonsillar herniation seen with Chiari I, there is a larger cerebellar vermian displacement. Low lying torcular herophili, tectal beaking, and hydrocephalus with consequent clival hypoplasia are classic anatomic associations.[10] The position of the torcular herophili is important for distinction from Dandy-Walker syndrome in which it is classically upturned. This is important because the hypoplastic cerebellum of Dandy-Walker may be difficult to distinguish from a Chiari malformation that has herniated or is ectopic on imaging. Colpocephaly may be seen due to the associated neural tube defect. | |
| III | Causes severe neurological defects. It is associated with an occipital encephalocele.[11] | |
| IV | Characterized by a lack of cerebellar development.[12] |
Chiari malformation is the most frequently used term for these types of malformations. The use of the term Arnold–Chiari malformation has fallen somewhat out of favor over time, although it is used to refer to the type II malformation. Current sources use "Chiari malformation" to describe four specific types of the condition, reserving the term "Arnold-Chiari" for type II only.[14] Some sources still use "Arnold-Chiari" for all four types.[15] This article uses the latter convention.
Chiari malformation or Arnold–Chiari malformation should not be confused with Budd-Chiari syndrome,[16] a hepatic condition also named for Hans Chiari.
[edit] Symptoms
- Headaches aggravated by Valsalva maneuvers, such as yawning, laughing, crying, coughing, sneezing or straining[17]
- Tinnitus (ringing in the ears)
- Dizziness and vertigo
- Nausea
- Nystagmus (irregular eye movements)
- Facial pain
- Muscle weakness
- Impaired gag reflex
- Restless Leg Syndrome
- Sleep Apnea
- Dysphagia (difficulty swallowing)[18]
- Impaired coordination
- Dysautonomia: tachycardia (rapid heart), syncope (fainting), polydipsia (extreme thirst), chronic fatigue [19]
[edit] Diagnosis
Diagnosis is made through a combination of patient history, neurological examination, and Magnetic Resonance Imaging (MRI). The radiographic criteria for diagnosing a congenital Chiari I Malformation is a downward herniation of the cerebellar tonsils greater than 5 mm below the foramen magnum. Other imaging techniques involve the use of 3-D CT imaging of the brain and cine imaging (a movie of the brain) can be used to determine if the brainstem is being compressed by the pulsating arteries that surround it.[21]In the Syndrome of Occipitoatlantoaxial Hypermobility, cerebellar tonsillar herniation is typically only evident on an up-right MRI, due to the fact that the Chiari Malformation is gravitationally acquired by means of connective tissue weakness.[7] 3-D CT imaging may aid in the diagnosis of related disorders such as retroflexed odontoid. Invasive cranial traction (lifting of the head off the spine) is often used as a confirmation of the diagnosis.[22]
The diagnosis of a Chiari II Malformation can be made prenatally through Ultrasound.[23]
[edit] Treatment
Once symptomatic onset occurs, a common treatment is decompression surgery,[24] in which a neurosurgeon usually removes the lamina of the first and sometimes the second or even third cervical vertebrae and part of the occipital bone of the skull to relieve pressure. The flow of spinal fluid may be accompanied by a shunt. Since this surgery usually involves the opening of the dura mater and the expansion of the space beneath, a dural graft is usually applied to cover the expanded posterior fossa.A small number of neurological surgeons believe that detethering the spinal cord as an alternate approach relieves the compression of the brain against the skull opening (foramen magnum), obviating the need for decompression surgery and associated trauma. However, this approach is significantly less documented in the medical literature, with reports on only a handful of patients. It should be noted that the alternative spinal surgery is also not without risk.[citation needed]
On April 24, 2009, a young patient with Type 1 Chiari malformation was successfully treated with a minimally invasive endoscopic transnasal procedure by Dr. Richard Anderson at the Columbia University Medical Center Department of Neurosurgery.[25]
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