Arnold–Chiari malformation

Arnold–Chiari malformation, or often simply known as Chiari malformation, is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum (the opening at the base of the skull), sometimes causing non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid (CSF) outflow. The cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain. It can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis.

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.

Other conditions sometimes associated with Chiari Malformation include hydrocephalus, syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders such as Ehlers-Danlos syndrome and Marfan syndrome.

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. Some sources still use "Arnold-Chiari" for all four types. This article uses the latter convention.

Chiari malformation or Arnold–Chiari malformation should not be confused with Budd-Chiari syndrome, a hepatic condition also named for Hans Chiari.

Brain Sagging and Pseudo-Chiari Malformation. The displacement of the cerebellar tonsils into the spinal canal may be mistaken for a Chiari I malformation, and some patients with spontaneous intracranial hypotension have undergone decompressive posterior fossa surgery.

Pathophysiology
The most widely accepted pathophysiological mechanism by which Chiari Type 1 Malformations occur is by a reduction or lack of development of the posterior fossa as a result of either congenital or acquired disorders. Congenital causes include hydrocephalus, craniosynostosis (especially of the lambdoid suture), hyperostosis (ex. craniometaphyseal dysplasia, osteopetrosis, erythroid hyperplasia), X-linked vitamin D-resistant rickets, and neurofibromatosis type I. Acquired disorders include space occupying lesions due to one of several potential causes ranging from brain tumors to hematomas.

Symptoms

 * Headaches aggravated by Valsalva maneuvers, such as yawning, laughing, crying, coughing, sneezing or straining
 * Tinnitus (ringing in the ears)
 * Vertigo (dizziness)
 * Nausea
 * Nystagmus (irregular eye movements)
 * Facial pain
 * Muscle weakness
 * Impaired gag reflex
 * Restless Leg Syndrome
 * Sleep Apnea
 * Sleep disorders
 * Dysphagia (difficulty swallowing)
 * Impaired coordination
 * Increased intracranial pressure
 * Pupillary dilation
 * Dysautonomia: tachycardia (rapid heart), syncope (fainting), polydipsia (extreme thirst), chronic fatigue

The blockage of cerebrospinal fluid (CSF) flow may also cause a syrinx to form, eventually leading to syringomyelia. Central cord symptoms such as hand weakness, dissociated sensory loss, and, in severe cases, paralysis may occur.

Chiari malformation and syringomyelia
Syringomyelia is a chronic progressive degenerative disorder characterized by a fluid-filled cyst located in the spinal cord. Its symptoms include pain, weakness, numbness, and stiffness in the back, shoulders, arms or legs. Other symptoms include headaches, the inability to feel changes in the temperature, sweating, sexual dysfunction, and loss of bowel and bladder control. It is usually seen in the cervical region but can extend into the medulla oblongata and pons or it can reach downward into the thoracic or lumbar segments. Syringomyelia is often associated with Chiari Malformation Type I and is commonly seen between the C-4 and C-6 levels. To this date the exact development of syringomyelia is unknown but many theories suggest that the herniated tonsils in Chiari Malformation Type I form a “plug” which does not allow an outlet of Cerebrospinal fluid (CSF) from the brain to the spinal canal. Syringomyelia is present in 25% of patients with Chiari Malformation.

Diagnosis
Diagnosis is made through a combination of patient history, neurological examination, and magnetic resonance imaging (MRI). Magnetic resonance is considered the best imaging modality for Chiari malformation to date. Computed tomography (CT) was the most utilized technique before MRI. It has never been completely reliable, as it can miss spinal cord cavitations. Neuroradiological investigation is used to first discount any intracranial condition that could be responsible for intracranial pressure and tonsillar herniation. Neuroradiological diagnosistics evaluate the severity of crowding of the neural structures within the posterior cranial fossa and their impact on the foramen magnum. Thin-section multiplanar CT with reformatted images is considered the best diagnostic approach for imaging of syringomyelia and prolapse of the vertebral column into the cranial cavity.

The diagnosis of a Chiari II malformation can be made prenatally through ultrasound.

Treatment
The treatments for Chiari malformation are based on the occurrence of clinical symptoms rather than the radiological findings. The presence of a syrinx is known to give specific signs and symptoms that vary from dysesthetic sensations to algothermal dissociation to spasticity and paresis. These are important indications that decompressive surgery is needed. Surgery is an immediate need for patients with Chiari Malformation Type II. Type II patients have severe brain stem damage and rapidly diminishing neurological response.

Decompressive surgery performed involves removing 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.

Complications of decompression surgery can arise. They include bleedings, damage to structures in the brain and spinal canal, meningitis, CSF fistulas, occipito-cervical instability and pseudomeningeocele. Rare post-operative complications include hydrocephalus and brain stem compression by retroflexion of odontoid. Also, an extended CVD created by a wide opening and big duroplasty can cause a cerebellar “slump”. This complication needs to be corrected by cranioplasty.

In cases with brainstem dysfunction, anterior decompression may also be required. On April 24, 2009, a young patient with Type 1 Chiari malformation was successfully treated with a minimally invasive endoscopic transnasal procedure followed by a posterior decompression and fusion by Dr. Richard Anderson and colleagues at the Columbia University Medical Center Department of Neurosurgery. This technique was later published by Hankinson and colleagues in the Journal of Neurosurgery

Epidemiology
The prevalence of congenital Chiari I malformation, defined as tonsilar herniations of 3 to 5 mm or greater, had been estimated to be in the range of one per 1000 births, but may be much higher. Women are three times more likely than men to have a congenital Chiari malformation. Type II malformations are more prevalent in people of Celtic descent. The incidence of symptomatic Chiari is less, but unknown.

History
The history of Chiari Malformation is described below and categorized by the year:
 * 1883: Cleland – first to describe Chiari II or Arnold- Chiari malformation on his report of a child with spina bifida, hydrocephalus, and anatomical alterations of the cerebellum and brainstem.
 * 1891: Hans Chiari- Viennese pathologist described the case of a 17 year old woman with elongation of the tonsils into cone shaped projections which accompany the medulla and are crammed into the spinal canal.
 * 1907: Schwalbe and Gredig- pupils of Arnold; described four cases of meningomyelocele and alterations in the brainstem and cerebellum, and gave the name “Arnold- Chiari” to these malformations.
 * 1932: Van Houweninge Graftdijk- first to report the surgical treatment of Chiari malformations. All patients died from surgery or postoperative complications.
 * 1935: Russell and Donald- suggested that decompression of the spinal cord at the foramen magnum might facilitate the CSF circulation.
 * 1940: Gustafson and Oldberg- diagnosed Chiari malformation with syringomyelia
 * 1974: Bloch et al.- described the tonsils position to be classified between 7 mm and 8 mm below cerebellum.
 * 1985: Aboulezz- used MRI for discovery of extension

Society and culture
The condition was brought to the mainstream on the series CSI: Crime Scene Investigation in the tenth season episode "Internal Combustion" on February 4, 2010. Chiari was briefly mentioned on the medical drama House M.D. in the fifth season episode "House Divided". and it was the focus of the sixth season episode "The Choice." It was also mentioned in the medical drama A Gifted Man, in the first season episode "In Case of Separation Anxiety."

Notable cases

 * Rosanne Cash
 * Bobby Jones - Legendary American golfer
 * Marissa Irwin -model with Chiari secondary to Ehlers-Danlos syndrome