chiari malformation chiari malformation 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. 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. not to be confused with budd–chiari syndrome. chiari malformationother nameshindbrain herniationa sagittal flair mri scan, from a patient with an arnold–chiari malformation, demonstrating tonsillar herniation of 7 mm.pronunciation/kiˈɑːriː/ specialtyneurosurgerycomplicationshydrocephalus, spina bifida, syringomyelia, tethered cord syndrome.typesi, ii, iii, ivtreatmentdecompressive surgeryprognosisvaries by type-see belowfrequency1 in 100 (type i) this can sometimes lead to 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. 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. signs and symptoms 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. neurogenic dysphagia: difficulty swallowing. seen by poor feeding in patient. cyanosis: bluish discoloration of skin while feeding. weak crying facial weakness aspiration headaches aggravated by valsalva maneuvers, such as yawning, laughing, crying, coughing, sneezing or straining, bending over, or getting up suddenly tinnitus (ringing in the ears) lhermitte's sign (electrical sensation that runs down the back and into the limbs) vertigo (dizziness) nausea schmahmann syndrome nystagmus (irregular eye movements; typically, so-called "downbeat nystagmus") facial pain muscle weakness impaired gag reflex dysphagia (difficulty swallowing) restless leg syndrome sleep apnea sleep disorders impaired coordination severe cases may develop all the symptoms and signs of a bulbar palsy paralysis due to pressure at the cervico-medullary junction may progress in a so-called "clockwise" fashion, affecting the right arm, then the right leg, then the left leg, and finally the left arm; or the opposite way around. papilledema on fundoscopic exam due to increased intracranial pressure pupillary dilation dysautonomia: tachycardia (rapid heart), syncope (fainting), polydipsia (extreme thirst), chronic fatigue apnea: sudden pause of breathing, usually during sleep. opisthotonos: spasm of the head which causes head to arch backwards. more common in infants than adults. stridor 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. syringomyelia main article: syringomyelia 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. pathophysiology foramen magnum (shown in red), the hole at the base of the skull 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. traumatic brain injury may cause delayed acquired chiari malformation, but the pathophysiology of this is unknown. additionally, ectopia may be present but asymptomatic until a whiplash injury causes it to become symptomatic. 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. diagnosis diagnosis is made through a combination of patient history, neurological examination, and medical imaging. magnetic resonance imaging (mri) is considered the preferred imaging modality for chiari malformation. 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. by convention, the cerebellar tonsil position is measured relative to the basion-opisthion line, using sagittal t1 mri images or sagittal ct images. 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. one study showed little difference in cerebellar tonsil position between standard recumbent mri and upright mri for patients without a history of whiplash injury. 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. the diagnosis of a chiari ii malformation can be made prenatally, through ultrasound. classification 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. since dr. chiari's original descriptions chiari 0, 1.5, 3.5, and 5 have been described in the medical literature. types of chiari malformation type presentation clinical features 0 syringohydromyelia in the absence of cerebellar tonsillar herniation. back pain, leg pain, hand numbness/weakness i herniation of cerebellar tonsils. 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). 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. 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 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. 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. usually accompanied by a lumbar or lumbosacral myelomeningocele, with tonsillar herniation below the foramen magnum. colpocephaly may be seen due to the associated neural tube defect. paralysis below the spinal bifida defect 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. abundant neurological deficits 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. 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. equivalent to primary cerebellar agenesis. not compatible with life v characterized by absence of cerebellar development and occipital lobe ectopia into the foramen magnum. 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. syringomyelia associated with chiari malformation other conditions sometimes causally 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 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. some sources still use "arnold–chiari" for all four types. chiari malformation or arnold–chiari malformation should not be confused with budd–chiari syndrome, 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. treatment 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. decompressive surgery 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. 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. the alternative spinal surgery is also not without risk. complications of decompression surgery can arise. they include bleeding, damage to structures in the brain and spinal canal, meningitis, csf fistulas,