Chiari malformation | |
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Other names | Hindbrain herniation |
A sagittal FLAIR MRI scan, from a patient with an Arnold–Chiari malformation, demonstrating tonsillar herniation of 7 mm. | |
Pronunciation | |
Specialty | Neurosurgery |
Complications | Hydrocephalus, spina bifida, syringomyelia, tethered cord syndrome. [1] |
Types | I, II, III, IV [2] |
Treatment | Decompressive surgery [3] |
Prognosis | varies by type-see below |
Frequency | 1 in 100 (type I) [lower-alpha 1] |
Named after |
Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). CMs can cause headaches, difficulty swallowing, vomiting, dizziness, neck pain, unsteady gait, poor hand coordination, numbness and tingling of the hands and feet, and speech problems. [5] Less often, people may experience ringing or buzzing in the ears, weakness, slow heart rhythm, or fast heart rhythm, curvature of the spine (scoliosis) related to spinal cord impairment, abnormal breathing, such as central sleep apnea, characterized by periods of breathing cessation during sleep, and, in severe cases, paralysis. [5]
This can sometimes lead to non-communicating hydrocephalus [6] as a result of obstruction of cerebrospinal fluid (CSF) outflow. [7] The cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain. The malformation is named after the Austrian pathologist Hans Chiari. A type II CM is also known as an Arnold–Chiari malformation in honor of Chiari and German pathologist Julius Arnold.
Findings are due to brain stem and lower cranial nerve dysfunction. Onset of symptoms are less likely to be present during adulthood in most patients. Younger children generally have a substantially different presentation of clinical symptoms from older children. Younger children are more likely to have a more rapid neurological degeneration with profound brain stem dysfunction over several days.[ citation needed ]
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. [14]
Syringomyelia is most often chronic progressive degenerative disorder characterized by a fluid-filled cyst located in the spinal cord. However, there can be also cases where the syrinx in terms of size and extent of symptoms actually stays stable throughout a lifetime. Syringomyelia 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 type I Chiari malformation and is commonly seen between the C-4 and C-6 levels. The exact development of syringomyelia is unknown but many theories suggest that the herniated tonsils in type I Chiari malformations cause a "plug" to form, which does not allow an outlet of CSF from the brain to the spinal canal. Syringomyelia is present in 25% of patients with type I Chiari malformations. [15]
The most widely accepted pathophysiological mechanism by which Chiari type I malformations occur is by a reduction or lack of development of the posterior fossa as a result of congenital or acquired disorders. Congenital causes include hydrocephalus, craniosynostosis (especially of the lambdoid suture), hyperostosis (such as 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. [16] Traumatic brain injury may cause delayed acquired Chiari malformation, but the pathophysiology of this is unknown. [17] Additionally, ectopia may be present but asymptomatic until a whiplash injury causes it to become symptomatic. [18]
Some neurological experts believe that Chiari malformation type I is developed as a result of Filum Disease, an abnormal traction of the spinal cord caused by an excessively tense Filum terminale. This theory was first introduced by Dr. Miguel B. Royo Salvador in 1993. [19]
Diagnosis is made through a combination of patient history, neurological examination, and medical imaging. [20] [21] Magnetic resonance imaging (MRI) is considered the preferred imaging modality for Chiari malformation. [22] The MRI visualizes neural tissue such as the cerebellar tonsils and spinal cord as well as bone and other soft tissues. CT and CT myelography are other options and were used prior to the advent of MRI, unfortunately the resolution of CT based modalities do not characterize syringomyelia and other neural abnormalities as well. [23]
By convention, the cerebellar tonsil position is measured relative to the basion-opisthion line, using sagittal T1 MRI images or sagittal CT images. [24] The selected cutoff distance for abnormal tonsil position is somewhat arbitrary, as not every person will be symptomatic at a certain amount of tonsil displacement, and the probability of symptoms and syrinx increases with greater displacement; however, greater than 5 mm is the most frequently cited cutoff number, though some consider 3–5 mm to be "borderline"; pathological signs and syrinx may occur beyond that distance. [24] [25] [26] One study showed little difference in cerebellar tonsil position between standard recumbent MRI and upright MRI for patients without a history of whiplash injury. [18] Neuroradiological investigation is used to first rule out any intracranial condition that could be responsible for tonsillar herniation. Neuroradiological diagnostics evaluate the severity of crowding of the neural structures within the posterior cranial fossa and their pressure against the foramen magnum. Chiari 1.5 is a term used when both brainstem and tonsillar herniation through the foramen magnum are present. [27]
The diagnosis of a Chiari II malformation can be made prenatally, through ultrasound. [28]
In the late 19th century, Austrian pathologist Hans Chiari 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. [29] Since Dr. Chiari's original descriptions Chiari 0, 1.5, 3.5, and 5 have been described in the medical literature. [30] [27] [31] [32]
Type | Presentation | Clinical Features |
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0 | Syringohydromyelia in the absence of cerebellar tonsillar herniation. [30] [33] [34] | Back pain, leg pain, hand numbness/weakness |
I | Herniation of cerebellar tonsils. [2] [35] [36] Tonsillar ectopia below the foramen magnum, with greater than 5 mm below as the most commonly cited cutoff value for abnormal position (although this is considered somewhat controversial). [24] [25] [37] [38] Syringomyelia of cervical or cervicothoracic spinal cord can be seen. Sometimes the medullary kink and brainstem elongation can be seen. Can be congenital, or acquired through trauma. When congenital, may be asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Syndrome of occipitoatlantoaxial hypermobility is an acquired Chiari I malformation in patients with hereditary disorders of connective tissue. [39] 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; thus they are at risk for acquiring a Chiari malformation. | Headache, neck pain, unsteady gait usually during childhood [2] |
1.5 | In addition to tonsillar ectopia, patients with this entity also have caudal descent of the brainstem. A significant proportion of these patients require a second surgery as a result of persistent syringomyelia. [27] [33] | Headache and neck pain, similar to Chiari I |
II | This is the only type also known as an "Arnold–Chiari" malformation. As opposed to the less-pronounced tonsillar herniation seen with Chiari I, there is a larger cerebellar vermian displacement. Low-lying torcular herophili (confluence of sinuses), tectal beaking, and hydrocephalus with consequent clival hypoplasia are classic anatomic associations. [40] Usually accompanied by a lumbar or lumbosacral myelomeningocele, with tonsillar herniation below the foramen magnum. [2] [41] Colpocephaly may be seen due to the associated neural tube defect. | Paralysis below the spinal bifida defect [2] |
III | Associated with an occipital encephalocele containing a variety of abnormal neuroectodermal tissues as well as possible herniation of elements of cerebellum, brainstem, and occipital lobe. Syringomyelia, tethered cord, and hydrocephalus may also be seen. [2] [42] | Abundant neurological deficits [2] |
3.5 | In 1894, Giuseppe Muscatello described what is believed to be the only case of an occipitocervical encephalocele with a communication to the stomach. This is an interesting historic finding; however, has not been seen nor described since then. [31] | Not compatible with life. |
IV | Characterized by a lack of cerebellar development, in which the cerebellum and brain stem lie within the posterior fossa with no relation to the foramen magnum. [2] [43] Equivalent to primary cerebellar agenesis. [44] | Not compatible with life [2] |
V | Characterized by absence of cerebellar development and occipital lobe ectopia into the foramen magnum. [32] This rare entity has two described cases in the medical literature, both associated with myelomeningocele. This has sparked controversy, given the proposed mechanism of this syndrome. Experts in neurosurgery disagree if this is truly a separate entity or just a part of the spectrum of Chiari 2 malformations. [45] |
Other conditions sometimes causally associated with Chiari malformation include hydrocephalus, [46] syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders [39] such as Ehlers–Danlos syndrome [47] and Marfan syndrome.
Chiari malformation is the most frequently used term for this set of conditions. 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 its four specific types, reserving the term "Arnold–Chiari" for type II only. [48] Some sources still use "Arnold–Chiari" for all four types. [49]
Chiari malformation or Arnold–Chiari malformation should not be confused with Budd–Chiari syndrome, [50] a hepatic condition also named for Hans Chiari.
In Pseudo-Chiari Malformation, leaking of CSF may cause displacement of the cerebellar tonsils and similar symptoms sufficient to be mistaken for a Chiari I malformation. [51]
While there is no current cure, the treatments for Chiari malformation are surgery and management of symptoms, 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 algo-thermal dissociation to spasticity and paresis. These are important indications that decompressive surgery is needed for patients with Chiari Malformation Type II. Type II patients have severe brain stem damage and rapidly diminishing neurological response. [52] [53]
Decompressive surgery [3] involves removing the lamina of the first and sometimes the second or third cervical vertebrae and part of the occipital bone of the skull to relieve pressure. The flow of spinal fluid may be augmented 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.[ citation needed ]
A small number of neurological surgeons[ who? ] 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. The alternative spinal surgery is also not without risk.[ citation needed ]
Complications of decompression surgery can arise. They include bleeding, damage to structures in the brain and spinal canal, meningitis, CSF fistulas, occipito-cervical instability and pseudomeningocele. 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. [52]
In certain cases, irreducible compression of the brainstem occurs from in front (anteriorly or ventral) resulting in a smaller posterior fossa and associated Chiari malformation. In these cases, an anterior decompression is required. The most commonly used approach is to operate through the mouth (transoral) to remove the bone compressing the brainstem, typically the odontoid. This results in decompressing the brainstem and therefore gives more room for the cerebellum, thus decompressing the Chiari malformation. Arnold Menzes, MD, is the neurosurgeon who pioneered this approach in the 1970s at the University of Iowa. Between 1984 and 2008 (the MR imaging era), 298 patients with irreducible ventral compression of the brainstem and Chiari type 1 malformation underwent a transoral approach for ventral cervicomedullary decompression at the University of Iowa. The results have been excellent resulting in improved brainstem function and resolution of the Chiari malformation in the majority of patients.[ citation needed ]
Congenital Chiari I malformation, defined as tonsilar herniations of 3 to 5 mm or greater, was previously believed to be in the range of one per 1000 births, but is likely much higher. [39] [54] Women are three times more likely than men to have a congenital Chiari malformation. [55] Type II malformations are more prevalent in people of Celtic descent. [54] A study using upright MRI found cerebellar tonsillar ectopia in 23% of adults with headache from motor-vehicle-accident head trauma. Upright MRI was more than twice as sensitive as standard MRI, likely because gravity affects cerebellar position. [18]
Cases of congenital Chiari malformation may be explained by evolutionary and genetic factors. Typically, an infant's brain weighs around 400g at birth and triples to 1100-1400g by age 11. At the same time the cranium triples in volume from 500 cm3 to 1500 cm3 to accommodate the growing brain. [56] During human evolution, the skull underwent numerous changes to accommodate the growing brain. The evolutionary changes included increased size and shape of the skull, decreased basal angle and basicranial length. These modifications resulted in significant reduction of the size of the posterior fossa in modern humans. In normal adults, the posterior fossa comprises 27% of the total intracranial space, while in adults with Chiari Type I, it is only 21%. [57] H. neanderthalensis had platycephalic (flattened) skulls. Some cases of Chiari are associated with platybasia (flattening of the skull base). [58]
The history of Chiari malformation:
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. [61] Chiari malformation was briefly mentioned on the medical drama House M.D. in the fifth-season episode "House Divided",[ citation needed ] It was the focus of the sixth-season episode "The Choice". It is also the focus of Private Practice Season 4 episode 4, where a pregnant woman is diagnosed with it. It was the cause of death on the reality television series Dr. G: Medical Examiner in the sixth-season episode "Bruised and Battered". It was also mentioned in the medical drama A Gifted Man , in the first-season episode "In Case of Separation Anxiety". [62] It is also featured in the 3rd and 4th episode of the 7th season of the series Rizzoli & Isles where Dr. Maura Isles is diagnosed with the condition. [63] [64] [ non-primary source needed ] [65]
A cerebral arteriovenous malformation is an abnormal connection between the arteries and veins in the brain—specifically, an arteriovenous malformation in the cerebrum.
Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. Often, syringomyelia is used as a generic term before an etiology is determined. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in loss of feeling, paralysis, weakness, and stiffness in the back, shoulders, and extremities. Syringomyelia may also cause a loss of the ability to feel extremes of hot or cold, especially in the hands. It may also lead to a cape-like bilateral loss of pain and temperature sensation along the upper chest and arms. The combination of symptoms varies from one patient to another depending on the location of the syrinx within the spinal cord, as well as its extent.
Hydrocephalus is a condition in which an accumulation of cerebrospinal fluid (CSF) occurs within the brain. This typically causes increased pressure inside the skull. Older people may have headaches, double vision, poor balance, urinary incontinence, personality changes, or mental impairment. In babies, it may be seen as a rapid increase in head size. Other symptoms may include vomiting, sleepiness, seizures, and downward pointing of the eyes.
Arachnoiditis is an inflammatory condition of the arachnoid mater or 'arachnoid', one of the membranes known as meninges that surround and protect the central nervous system. The outermost layer of the meninges is the dura mater and adheres to inner surface of the skull and vertebrae. The arachnoid is under or "deep" to the dura and is a thin membrane that adheres directly to the surface of the brain and spinal cord.
Hemifacial spasm (HFS) is a rare neuromuscular disease characterized by irregular, involuntary muscle contractions (spasms) on one side (hemi-) of the face (-facial). The facial muscles are controlled by the facial nerve, which originates at the brainstem and exits the skull below the ear where it separates into five main branches.
Microvascular decompression (MVD), also known as the Jannetta procedure, is a neurosurgical procedure used to treat trigeminal neuralgia, a pain syndrome characterized by severe episodes of intense facial pain, and hemifacial spasm. The procedure is also used experimentally to treat tinnitus and vertigo caused by vascular compression on the vestibulocochlear nerve.
Brain herniation is a potentially deadly side effect of very high pressure within the skull that occurs when a part of the brain is squeezed across structures within the skull. The brain can shift across such structures as the falx cerebri, the tentorium cerebelli, and even through the foramen magnum. Herniation can be caused by a number of factors that cause a mass effect and increase intracranial pressure (ICP): these include traumatic brain injury, intracranial hemorrhage, or brain tumor.
Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the three meningeal layers that cover the brain and the spinal cord. Primary arachnoid cysts are a congenital disorder whereas secondary arachnoid cysts are the result of head injury or trauma. Most cases of primary cysts begin during infancy; however, onset may be delayed until adolescence.
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum does not fully form, and the fourth ventricle and space behind the cerebellum are enlarged with cerebrospinal fluid. Most of those affected develop hydrocephalus within the first year of life, which can present as increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes and seizures. Other, less common symptoms are generally associated with comorbid genetic conditions and can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumours, other brain defects such as agenesis of the corpus callosum, skeletal abnormalities, an occipital encephalocele or underdeveloped genitalia or kidneys. It is sometimes discovered in adolescents or adults due to mental health problems.
A syrinx is a rare, fluid-filled neuroglial cavity within the spinal cord (syringomyelia), in the brain stem (syringobulbia), or in the nerves of the elbow, usually in a young age.
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), occult, dermal sinus tracts, and dermoids. All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.
A cerebral shunt is a device permanently implanted inside the head and body to drain excess fluid away from the brain. They are commonly used to treat hydrocephalus, the swelling of the brain due to excess buildup of cerebrospinal fluid (CSF). If left unchecked, the excess CSF can lead to an increase in intracranial pressure (ICP), which can cause intracranial hematoma, cerebral edema, crushed brain tissue or herniation. The drainage provided by a shunt can alleviate or prevent these problems in patients with hydrocephalus or related diseases.
A cerebrospinal fluid leak is a medical condition where the cerebrospinal fluid (CSF) that surrounds the brain and spinal cord leaks out of one or more holes or tears in the dura mater. A CSF leak is classed as either nonspontaneous (primary), having a known cause, or spontaneous (secondary) where the cause is not readily evident. Causes of a primary CSF leak are those of trauma including from an accident or intentional injury, or arising from a medical intervention known as iatrogenic. A basilar skull fracture as a cause can give the sign of CSF leakage from the ear nose or mouth. A lumbar puncture can give the symptom of a post-dural-puncture headache.
Basilar invagination is invagination (infolding) of the base of the skull that occurs when the top of the C2 vertebra migrates upward. It can cause narrowing of the foramen magnum. It also may press on the lower brainstem.
The Chiari Institute is a medical institution that focuses on the treatment of Arnold–Chiari malformation and syringomyelia. It was established in 2001 by the North Shore-LIJ Health System, and is located in Great Neck, New York. The institute was founded by Thomas H. Milhorat, MD shortly after he was appointed the Chairman of Neurosurgery at the North Shore-Long Island Jewish Health System, and Paolo Bolognese, MD. It is now led by Raj Narayan, MD. Paolo Bolognese left TCI on September, 1st, 2014
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities. Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation, body asymmetry, polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
Karin Marie Muraszko is an American pediatric neurosurgeon.
Chiari-like malformation (CM) the most common cause of foramen magnum obstruction and syringomyelia in dogs. Syringomyelia (SM) is a disease of the spinal cord typified by fluid filled cavities, or syrinxes, within the spinal cord substance but it can cause pain by disrupting the cerebrospinal fluid (CSF), in the brain CM is a condition characterized by the mismatch of size between the brain and the skull. CM is very widespread in many Toy breed dogs and has been studied in the Cavalier King Charles Spaniel and the Griffon Bruxellois and Chihuahua. As many as 95% of Cavalier King Charles Spaniels may have CM. It is worldwide in scope and not limited to any country, breeding line, or kennel, and experts report that it is believed to be inherited CM is so widespread in the Cavalier that it may be an inherent part of the CKCS's breed standard. This disease not only affects thousands of dogs, but a similar condition affects over three hundred thousand children yearly. Therefore, canines are an appropriate model for the treatment of the human condition.
Cavernous hemangioma, also called cavernous angioma, venous malformation, or cavernoma, is a type of venous malformation due to endothelial dysmorphogenesis from a lesion which is present at birth. A cavernoma in the brain is called a cerebral cavernous malformation or CCM. Despite its designation as a hemangioma, a cavernous hemangioma is not a tumor as it does not display endothelial hyperplasia. The abnormal tissue causes a slowing of blood flow through the cavities, or "caverns". The blood vessels do not form the necessary junctions with surrounding cells, and the structural support from the smooth muscle is hindered, causing leakage into the surrounding tissue. It is the leakage of blood, referred to as hemorrhage, that causes a variety of symptoms known to be associated with the condition.
Cervicocranial syndrome or is a neurological illness. It is a combination of symptoms that are caused by an abnormality in the neck. The bones of the neck that are affected are cervical vertebrae (C1-C7). This syndrome can be identified by confirming cervical bone shifts, collapsed cervical bones or misalignment of the cervical bone leading to improper functioning of cervical spinal nerves. Cervicocranial syndrome is either congenital or acquired. Some examples of diseases that could result in cervicocranial syndrome are Chiari disease, Klippel-Feil malformation osteoarthritis, and trauma. Treatment options include neck braces, pain medication and surgery. The quality of life for individuals suffering from CCJ syndrome can improve through surgery.
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