Arnold Chiari Malformation (Chiari Malformation Type 2)

Chiari malformations are a group of complex brain abnormalities.

The disease is promted by this process: congenital.

Presentation

Patients with type I CM do not show any symptoms. Adolescents and adults may develop symptoms of CM later in their life. Patients with CM often complain of neck pain or numbness. There are abnormal feelings in the extremities, muscle weakness and balance troubles. There are altered vision profiles, buzzing in the ears, vomiting, nausea, trouble in swallowing food, and hearing loss. Worsening of the conditions of this malformation leads to insomnia, sleep apnea, persistent headache and depression [3]. Patients may have difficulty in hand coordination and the fine motor skills are also affected.

Children and infants may show symptoms such as difficulty in swallowing and excessive drooling, weakness in arms, breathing problems and developmental delays. Parents are therefore advised to document the symptoms, and convey them to the pediatrician for early diagnosis.

Adult patients with type 1 CM, may initially present with benign paroxysmal vertigo and could be confused as a trivial benign positional vertigo [4]. Patients in the mid age may present with shortness of breath as an inaugural sign due to alveolar hypoventilation [5].

Ears
Tinnitus
  • She also continued to suffer from headaches, dizziness and tinnitus.[f1000research.com]
  • Other symptoms include neck, arm, and leg pain, numbness, loss of temperature sensation, unsteadiness, double vision, slurred speech, trouble swallowing, vomiting and tinnitus (ringing in the ears).[neurosurgery.ucla.edu]
  • […] include: Headaches, often made worse by coughing, sneezing, or straining Neck pain Balance problems Muscle weakness Numbness or other abnormal feeing in your arms or legs Dizziness Vision problems Difficulty swallowing Ringing or buzzing in your ears (tinnitus[barrowneuro.org]
  • The main symptoms people with Type II malformations might experience are: headaches (usually at the back of the head and often made worse by coughing, sneezing or straining) neck pain dizziness and balance problems hearing loss and/or tinnitus muscle[physio-pedia.com]
  • Vertigo, dizziness, ringing in the ears (tinnitus) and bilateral hearing impairment can also develop.[rarediseases.org]
Hearing Impairment
  • Vertigo, dizziness, ringing in the ears (tinnitus) and bilateral hearing impairment can also develop.[rarediseases.org]
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  • Eyes
    Blurred Vision
    • Visual problems such as nystagmus (involuntary eye movements), double or blurred vision may occur.[asap.org]
    • Other complaints that may be noted in these patients are nausea and vomiting, dysarthria, intermittent blurred vision, diplopia, and ataxic gait.[dynamicchiropractic.com]
    • The dizziness and headaches may cause blurred vision that leaves you unable to handle sedentary tasks and complete paperwork.[disability-benefits-help.org]
    • People with Arnold-Chiari malformations may have visual problems, including blurred vision, double vision, or blind spots.[encyclopedia.com]
    • Abnormalities affecting the eyes can also affect individuals with a Chiari malformation including double vision (diplopia), abnormal sensitivity to light (photophobia), blurred vision, involuntary eye movements (nystagmus) and pain behind the eyes.[rarediseases.org]
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  • musculoskeletal
    Neck Pain
    • After surgery, you can expect headache and neck pain from the incision that may last several weeks.[mayfieldchiaricenter.com]
    • Associated neck pain is a frequent complaint.[mhni.com]
    • Frequently, these patients complain of headache and neck pain.[emedicine.medscape.com]
    • pain Balance problems Muscle weakness Numbness or other abnormal feeing in your arms or legs Dizziness Vision problems Difficulty swallowing Ringing or buzzing in your ears (tinnitus) Hearing loss Vomiting Insomnia Depression Problems with hand coordination[barrowneuro.org]
    • That pressure leads to a wide variety of symptoms, the most common being headache and neck pain, which typically gets worse with exertion (exercise, coughing, sneezing, and even laughing).[weillcornellbrainandspine.org]
    Shoulder Pain
    Muscle Spasticity
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  • gastrointestinal
    Vomiting
    • They may also complain of ringing in the ears, hearing loss, vomiting, depression, and difficulty using their hands.[princetonbrainandspine.com]
    • Depression Symptoms of Chiari in babies and children may vary somewhat and can include: Feeding problems including swallowing difficulties, excessive drooling, gagging, vomiting and irritability during feeding Weak cries Arm weakness Breathing problems[migraine.com]
    • Other symptoms include neck, arm, and leg pain, numbness, loss of temperature sensation, unsteadiness, double vision, slurred speech, trouble swallowing, vomiting and tinnitus (ringing in the ears).[neurosurgery.ucla.edu]
    • Other complaints that may be noted in these patients are nausea and vomiting, dysarthria, intermittent blurred vision, diplopia, and ataxic gait.[dynamicchiropractic.com]
    • Headache, vomiting, visual disturbances, diplopia; mental dullness, lack of coordination, paralysis of extremities, cerebellar ataxia, and sensory disorders Aetiology unknown.[whonamedit.com]
    Dysphagia
    • In 2 of these patients only stridor was seen, in 4 stridor with attacks of apnoea, in 2 attacks of apnoea with dysphagia, and in 4 children stridor, attacks of apnoea and dysphagia.[thieme-connect.com]
    • The most important mechanism of recurrent aspiration pneumonia was dysphagia[ 14 ].[mrmjournal.biomedcentral.com]
    • Dysphagia or nasal regurgitation.[patient.info]
    • Additional testing will be determined based on symptoms, for example vestibular testing will be used on patients with dizziness, and a barium swallow if you have symptoms of dysphagia.[migraine.com]
    • Additional symptoms associated with a Chiari malformation may include poor coordination and balance problems, muscle weakness, difficulties swallowing (dysphagia) or speaking (dysarthria), palpitations, fainting episodes (syncope) and tingling or burning[rarediseases.org]
    Nausea
    • Arnold-Chiari malformation Pathology Type Hernia Cause(s) Congenital or genetic Symptoms Headaches , ringing in ears, dizziness , nausea , nystagmus , face pain , muscle weakness, impaired gag reflex , sleep apnea , difficulty swallowing, impaired coordination[house.wikia.com]
    • Other complaints that may be noted in these patients are nausea and vomiting, dysarthria, intermittent blurred vision, diplopia, and ataxic gait.[dynamicchiropractic.com]
    • The headaches can last minutes or hours and may be linked with nausea.[encyclopedia.com]
    • Symptoms can include: Nausea Facial pain Sleep apnea Lhermitte's sign Sleep disorders Pupillary dilation Muscle weakness Vertigo (dizziness) Impaired gag reflex Difficulty swallowing Impaired coordination Restless leg syndrome Tinnitus (ringing in the[disabled-world.com]
    • Nausea may be unrelenting Tinnitus (ringing or buzzing ears) and/or hearing loss Fainting or “drop attacks” Heart arrhythmia Insomnia and/or sleep apnea Brain fog Endocrine symptoms including flattened pituitary gland In Chiari II there may be additional[migraine.com]
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  • respiratoric
    Cough
    • […] shaking or trembling Difficulty walking Numbness or tingling in the arms or legs Symptoms in infants with type II or III may include: Gagging or vomiting Paralysis of the limbs Difficulty swallowing Difficulty breathing Inability to gain weight Chronic cough[health.cvs.com]
    • Characteristically, but not always, the pain may worsen with neck movement, coughing, or straining movements.[mhni.com]
    • But if the malformation is severe, type I may cause symptoms such as: Pain in the lower back of the head into the neck; it usually develops quickly and intensifies with any activity that increases pressure in the brain, such as coughing and sneezing .[webmd.com]
    • The pain is many times worsened, or may be started by, sneezing, coughing, or straining.[disabled-world.com]
    • Symptoms Pain, especially headache in the back of the head, aggravated by coughing and straining.[neurosurgery.ucla.edu]
    Hoarseness
    • Other Symptoms Chiari malformation symptoms can also include: Hoarseness Difficulty swallowing Rapid, side-to-side eye movements (nystagmus) Muscle weakness, lack of balance or abnormal reflexes Nerve problems, including paralysis Chiari Malformation[hopkinsmedicine.org]
    • […] trembling Difficulty walking Numbness or tingling in the arms or legs Symptoms in infants with type II or III may include: Gagging or vomiting Paralysis of the limbs Difficulty swallowing Difficulty breathing Inability to gain weight Chronic cough or hoarseness[health.cvs.com]
    • Another common complaint linked with Arnold-Chiari malformations is hoarseness.[encyclopedia.com]
    • […] balance) Poor hand coordination (fine motor skills) Numbness and tingling of the hands and feet Dizziness Difficulty swallowing, sometimes accompanied by gagging, choking and vomiting Vision problems (blurred or double vision) Speech problems, such as hoarseness[mayoclinic.org]
    • […] with type I ACM (BMI 19.2 kg/m 2 , neck and waist circumference 34 and 65 cm respectively, Mallampati score 2), was referred to our Respiratory Unit with a history of chronic cough and purulent sputum, fever, intense dyspnoea (MRC dyspnoea scale 4), hoarseness[mrmjournal.biomedcentral.com]
    Stridor
    • In 2 of these patients only stridor was seen, in 4 stridor with attacks of apnoea, in 2 attacks of apnoea with dysphagia, and in 4 children stridor, attacks of apnoea and dysphagia.[thieme-connect.com]
    • In babies, the most common symptoms are a weak or absent cry, breathing difficulties, including stridor (noisy breathing), arching of the neck, failure to thrive and feeding or swallowing difficulties.[physio-pedia.com]
    • Presentation in infancy Inspiratory stridor.[patient.info]
    • […] symptoms Lower brainstem symptoms (eg, dysarthria, dysphagia, downbeat nystagmus) Central cord symptoms (eg, hand weakness, dissociated sensory loss, cape anesthesia) In infants, signs of brainstem dysfunction predominate: swallowing/feeding difficulties, stridor[emedicine.medscape.com]
    Aspiration
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  • neurologic
    Headache
    • Over 5 years, the patient developed paresthesias, worsened headaches, and decreased hand coordination.[neurology.org]
    • By Brad McKechnie, DC, DACAN One of the more common reasons for a patient to see a chiropractor is for treatment of headaches.[dynamicchiropractic.com]
    • Headache and other symptoms are common.[mhni.com]
    • It isn’t effective for all cases of dizziness or headaches.[disability-benefits-help.org]
    Dizziness
    • It isn’t effective for all cases of dizziness or headaches.[disability-benefits-help.org]
    • Some patients with Chiari develop symptoms (dizziness mainly) on straining.[dizziness-and-balance.com]
    • They may experience vertigo, difficulties with balancing, and dizziness.[disabled-world.com]
    • Arnold-Chiari malformation Pathology Type Hernia Cause(s) Congenital or genetic Symptoms Headaches , ringing in ears, dizziness , nausea , nystagmus , face pain , muscle weakness, impaired gag reflex , sleep apnea , difficulty swallowing, impaired coordination[house.wikia.com]
    • Some common symptoms include headaches, dizziness, sleep and vision problems, and depression.[stanfordchildrens.org]
    Nystagmus
    • Positional nystagmus is common.[dizziness-and-balance.com]
    • Nystagmus (irregular eye movements; typically, so-called "downbeat nystagmus").[disabled-world.com]
    • BR Pober, JJ Filiano - Pediatric neurology, 1995 - Elsevier Bilateral vocal cord paralysis associated with meningomyelocele and the arnold‐chiari malformation - MD Graham - The Laryngoscope, 1963 - Wiley Online Library Arnold-Chiari malformation and nystagmus[symptoma.com]
    • Arnold-Chiari malformation Pathology Type Hernia Cause(s) Congenital or genetic Symptoms Headaches , ringing in ears, dizziness , nausea , nystagmus , face pain , muscle weakness, impaired gag reflex , sleep apnea , difficulty swallowing, impaired coordination[house.wikia.com]
    Vertigo
    • These may include unsteadiness, vertigo, headache, weakness or numbness.[american-hearing.org]
    • They may experience vertigo, difficulties with balancing, and dizziness.[disabled-world.com]
    • Thus the Chiari can cause cervical vertigo.[dizziness-and-balance.com]
    • Balance difficulties, vertigo and dizziness also may be present.[asap.org]
    • Symptoms Decreased strength and/or sensation in the arms and legs Balance and coordination problems Neck stiffness or pain Headache Dizziness or vertigo Rapid eye movement Swallowing difficulty Respiratory problems Types of Chiari Malformations Type I[neurosurgerycnj.com]
    Ataxia
    • Headache, vomiting, visual disturbances, diplopia; mental dullness, lack of coordination, paralysis of extremities, cerebellar ataxia, and sensory disorders Aetiology unknown.[whonamedit.com]
    • Neurologic examination showed nistagmus, tongue twitching, dysarthria, dizziness, walking ataxia, severe dysphagia and persistent bilateral abductor vocal cord paralysis.[mrmjournal.biomedcentral.com]
    • Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA.[fpnotebook.com]
    • Compression of the hindbrain can cause weakness, paraesthesia, ataxia, cranial nerve palsies, dysphagia, dysphasia, palpitations, syncope, apnoea and sudden death.[patient.info]
    • […] symptoms include loss of muscle mass, muscle weakness, numbness or decreased sensation especially to hot and cold, abnormal curvature of the spine (scoliosis), loss of bowel and bladder control, chronic pain, muscle contractions, uncoordinated movements (ataxia[rarediseases.org]
    Irritability
    • Difficulty walking Numbness or tingling in the arms or legs Symptoms in infants with type II or III may include: Gagging or vomiting Paralysis of the limbs Difficulty swallowing Difficulty breathing Inability to gain weight Chronic cough or hoarseness Irritability[health.cvs.com]
    • In Chiari type II, infants may have symptoms from difficulty swallowing, irritability, drooling, gagging or vomiting, arm weakness, neck stiffness, and developmental delays.[princetonbrainandspine.com]
    • Hydrocephalus can cause an abnormally enlarged head (macrocephaly), vomiting, irritability, seizures, and delays in attaining developmental milestones.[rarediseases.org]
    • Depression Symptoms of Chiari in babies and children may vary somewhat and can include: Feeding problems including swallowing difficulties, excessive drooling, gagging, vomiting and irritability during feeding Weak cries Arm weakness Breathing problems[migraine.com]
    • Infants with a Chiari malformation may have difficulty swallowing, irritability when being fed, excessive drooling, a weak cry, gagging or vomiting, arm weakness, a stiff neck, breathing problems, developmental delays, and an inability to gain weight.[ninds.nih.gov]
    Insomnia
    • […] worse by coughing, sneezing, or straining Neck pain Balance problems Muscle weakness Numbness or other abnormal feeing in your arms or legs Dizziness Vision problems Difficulty swallowing Ringing or buzzing in your ears (tinnitus) Hearing loss Vomiting Insomnia[barrowneuro.org]
    • During the same period she started to experience psychiatric symptoms, at the beginning characterized by excessive anxiety, epigastric discomfort, restlessness and insomnia.[f1000research.com]
    • Nausea may be unrelenting Tinnitus (ringing or buzzing ears) and/or hearing loss Fainting or “drop attacks” Heart arrhythmia Insomnia and/or sleep apnea Brain fog Endocrine symptoms including flattened pituitary gland In Chiari II there may be additional[migraine.com]
    • […] symptoms may vary among individuals and may include: neck pain hearing or balance problems muscle weakness or numbness dizziness difficulty swallowing or speaking vomiting ringing or buzzing in the ears (tinnitus) curvature of the spine (scoliosis) insomnia[ninds.nih.gov]
    Dysarthria
    • Other complaints that may be noted in these patients are nausea and vomiting, dysarthria, intermittent blurred vision, diplopia, and ataxic gait.[dynamicchiropractic.com]
    • Additional symptoms associated with a Chiari malformation may include poor coordination and balance problems, muscle weakness, difficulties swallowing (dysphagia) or speaking (dysarthria), palpitations, fainting episodes (syncope) and tingling or burning[rarediseases.org]
    • Characteristic Chiari I Chiari II Usual age of diagnosis Adults and older children Infants and young children Clinical findings Headache and neck pain (worsened by cough or Valsalva maneuver) Myelopathy Cerebellar symptoms Lower brainstem symptoms (eg, dysarthria[emedicine.medscape.com]
    • Neurologic examination showed nistagmus, tongue twitching, dysarthria, dizziness, walking ataxia, severe dysphagia and persistent bilateral abductor vocal cord paralysis.[mrmjournal.biomedcentral.com]
    Downbeat Nystagmus
    • Movie of downbeating nystagmus (5 meg).[dizziness-and-balance.com]
    • These symptoms overlap with those of Meniere’s disease as well as to lesser extent, migraine (Sperling et al, 2001) Signs of a significant Chiari malformation often include downbeat nystagmus, poor visual pursuit for age, and alternating skew deviation[american-hearing.org]
    • Nystagmus (irregular eye movements; typically, so-called "downbeat nystagmus").[disabled-world.com]
    • Chiari II Usual age of diagnosis Adults and older children Infants and young children Clinical findings Headache and neck pain (worsened by cough or Valsalva maneuver) Myelopathy Cerebellar symptoms Lower brainstem symptoms (eg, dysarthria, dysphagia, downbeat[emedicine.medscape.com]
    Paresthesia
    • Over 5 years, the patient developed paresthesias, worsened headaches, and decreased hand coordination.[neurology.org]
    • […] malformation may include poor coordination and balance problems, muscle weakness, difficulties swallowing (dysphagia) or speaking (dysarthria), palpitations, fainting episodes (syncope) and tingling or burning sensations in the fingers, toes or lips (paresthesias[rarediseases.org]
    • The main symptoms include ataxia, dizziness, chronic headache, nystagmus, twitching, oropharyngeal dysfunction, recurrent respiratory infections, paresthesia, pyramidal signs and sleep disordered breathing (SDB) encompassing a number of sleep disturbances[mrmjournal.biomedcentral.com]
    Cerebellar Sign
    • Symptoms of Arnold-Chiari Malformation (Type 1) Upper motor neurone and cerebellar signs Clumsiness Awkward "drunken" like gait/walking difficulties Bilateral problems with co-ordination of movement more symptoms...»[rightdiagnosis.com]
    Oscillopsia
    • Sharpe, “Oscillopsia and Horizontal Nystagmus with Accelerating Slow Phases Following Lumbar Puncture in the Arnold-Chiari Malformation,” Annals of Neurology, Vol. 33, No. 4, 1993, pp. 418-421. doi:10.1002/ana.410330418 S.[dx.doi.org]
    Babinski Sign
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  • Entire body system
    Weakness
    • Central cord symptoms such as hand weakness, sensory loss, and, in severe cases, paralysis may occur.[physio-pedia.com]
    • This can stretch the spinal cord and result in pain, weakness, stiffness, and bowel and bladder problems.[princetonbrainandspine.com]
    • People with Chiari malformation can also experience muscle weakness, notably in their upper extremities.[disabled-world.com]
    • In some patients with a Chiari malformation, increasing pressure from a syrinx can affect neuromuscular function, causing limb weakness or difficulties with walking or breathing.[hopkinsmedicine.org]
    • Numbness or weakness in the hands and arms.[gillettechildrens.org]
    Developmental Delay
    • Developmental delays may require further medical follow up for underlying problems.[urmc.rochester.edu]
    • It is typically brought to light after a child begins exhibiting developmental delays and the parent seeks medical care.[neurosurgerycnj.com]
    • In Chiari type II, infants may have symptoms from difficulty swallowing, irritability, drooling, gagging or vomiting, arm weakness, neck stiffness, and developmental delays.[princetonbrainandspine.com]
    • delay Failure to thrive, or problems gaining or maintaining weight The occurrence of Chiari was once estimated to be about 1:1000 births, but with better imaging and diagnostic techniques physicians are finding it is actually much more common than was[migraine.com]
    Epilepsy
    • ADHD -- Undiagnosed Alzheimer Disease -- Undiagnosed Migraine -- Undiagnosed Concentration Disorders -- Undiagnosed Stroke -- Undiagnosed Bipolar Disorder -- Undiagnosed Schizophrenia -- Undiagnosed Epilepsy -- Undiagnosed more undiagnosed conditions.[rightdiagnosis.com]
    • […] brain biopsy Glioblastoma multiforme Cushing Syndrome Photodynamic therapy Brachial plexus injuries Chronic sacro-ileitis Degenerative discal disease About degenerative discal disease Cervical and lumbar discal prosthesis Full lumbar discal prosthesis Epilepsy[neuros.net]
    • Six-year-old Allie Barone had been suffering from severe headaches for a few years — and since her family has a history of epilepsy and migraines, her mother, Stephanie, decided it was finally time to see a specialist.[foxnews.com]
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  • Jaw & Teeth
    Tongue Atrophy
    • The clinical neurological examination findings for these patients include: papilledema (an indicator of hydrocephalus due to blockage of cerebrospinal fluid flow by the Arnold-Chiari malformation), facial weakness, dysphonia, apnea, tongue atrophy, diplopia[dynamicchiropractic.com]
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  • Workup

    Though there are no specific symptoms associated with this malformation, it is often discovered only when complications arise.

    Diagnostic tests

    • X-ray: Though X-ray of the head and neck cannot reveal the CM, it can help to identify the abnormalities associated with the bones related to CM.
    • Computed tomography (CT): This scan produces a 2-dimensional picture of the bone and the vascular irregularities, along with cyst formation or brain damage.
    • Magnetic resonance imaging (MRI): MRI will elucidate findings of tonsillar herniation of at least 5mm, overcrowding of structures by the foramen magnum and the underdevelopment of the posterior cranial fossa which clinches the definitive imaging diagnosis of type I CM [6]. A pre-surgical MRI evaluation of the cerebrospinal fluid flow in the foramen magnum may determine the degree of tonsillar herniation which correlates directly to the success rate of the operation [7].

    Imaging

    X-ray
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  • MR
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  • Treatment

    If this disease does not show any symptoms and interfere with the daily activities, treatment is not necessary. Symptomatic treatment is quite common in the absence of the correct diagnosis, for example, if pain persists; analgesics are advised to manage the symptoms. However, if there are multiple symptoms that affect the patient on the day-to-day basis, surgery is the only treatment modality that can cease the progression of the disease. The goal of surgery in Chiari malformation is two-fold:

    1. Relief of the pressure on the brain and the spinal cord.
    2. Restoring the fluid circulation in and around the area.

    Some of the common surgical procedures performed in patients with CM are as follows:

    • Posterior fossa decompression surgery: In this surgery, there is a removal of the portion of the bottom of the skull or the spinal cord to correct the altered bony structures. In the procedure, the dura is also opened and widened, creating an additional space for the fluid to circulate. Foramen magnum decompression procedures resolves primary signs and help resolve complications like syringomyelia [8].
    • Electrocautery: High frequency electrical current helps to shrink the lower part of the cerebellum making the space needed.
    • Spinal laminectomy: In this procedure, the part of the bony roof of the spinal canal is removed, thus increasing the size and reducing the pressure on the spinal cord.

    Surgery of the malformation has shown to reduce the symptoms significantly, prolonging the periods of remission.

    Prognosis

    Type I CM is generally asymptomatic. In complicated cases, surgery can help to reduce the symptoms associated with the malformation.

    Complications

    There are cases documented where CM becomes progressive, leading to serious complications. The complications associated with the disorder are as follows:

    • Hydrocephalus: This is a condition in which there is an excess accumulation of cerebrospinal fluid in the brain, thus requiring the placement of the shunt to drain this excess fluid.
    • Spina bifida: This is the condition in which the spinal cord or its covering is not fully developed, and forms a manifestation of ACM. Serious complications such as paralysis is common in such patients.
    • Syringomyelia: There can be an appearance of the cyst or cavity which is formed within the spinal cord. This is referred to as syringomyelia. The untreated syringomyelia may complicate with neuropathic arthropathy which are more marked in the elbows [2].
    • Tethered cord syndrome: Sometimes the spinal cord gets stretched causing severe nerve and muscle damage to the lower part of the body.

    Complications

    Scoliosis
    • Figure 6.- Thoracic scoliosis with axial images on the high and low thoracic MRI of the same patient.[raredr.com]
    • Scoliosis In children younger than 16 whose spines are still growing, the presence of a syrinx can also be associated with the development of scoliosis , an abnormal, lateral (side-to-side) curvature of the spine.[hopkinsmedicine.org]
    • Associations spinal syringohydromyelia scoliosis segmentational anomalies : 50% 7 Klippel-Feil syndrome atlanto-axial assimilation diastematomyelia cerebral dysgenesis of corpus callosum absent septum pellucidum obstructive hydrocephalus fenestration[radiopaedia.org]
    • Scoliosis is a bending of the spine in different directions affecting the curvature of the spine.[princetonbrainandspine.com]
    • These include hydrocephalus, scoliosis, spina bifida , and syringomyelia (a problem with the spine that can lead to nerve damage or paralysis).[kidshealth.org]
    Sensorineural Hearing Loss
    Central Sleep Apnea
    • PubMed Google Scholar White DP: Pathogenesis of obstructive and central sleep apnea.[mrmjournal.biomedcentral.com]
    • sleep apnea, characterized by periods of breathing cessation during sleep Chiari malformation type II In Chiari malformation type II, a greater amount of tissue extends into the spinal canal compared with Chiari malformation type I.[mayoclinic.org]
    Syncope
    • Epidemiologie Geschlechtsverteilung Altersverteilung Selbsttest Arnold-Chiari malformation with normal spine and cranium - P TENG, C PAPATHEODOROU - Archives of Neurology, 1965 - Am Med Assoc 'Sneeze syncope', basilar invagination and Arnold-Chiari type[symptoma.com]
    • Presentation in childhood or adolescence Syncope.[patient.info]
    • This can result in apnea (cessation of breathing), gagging, swallowing difficulties, facial numbness or syncope (temporary loss of consciousness).[asap.org]
    • Additional symptoms associated with a Chiari malformation may include poor coordination and balance problems, muscle weakness, difficulties swallowing (dysphagia) or speaking (dysarthria), palpitations, fainting episodes (syncope) and tingling or burning[rarediseases.org]
    • Dysautonomia : tachycardia (rapid heart), syncope (fainting), polydipsia (extreme thirst), chronic fatigue.[disabled-world.com]
    Depression
    • Some common symptoms include headaches, dizziness, sleep and vision problems, and depression.[stanfordchildrens.org]
    • […] coughing, sneezing, or straining Neck pain Balance problems Muscle weakness Numbness or other abnormal feeing in your arms or legs Dizziness Vision problems Difficulty swallowing Ringing or buzzing in your ears (tinnitus) Hearing loss Vomiting Insomnia Depression[barrowneuro.org]
    • In this period her mood was slightly depressed without suicidal intent.[f1000research.com]
    • They may also complain of ringing in the ears, hearing loss, vomiting, depression, and difficulty using their hands.[princetonbrainandspine.com]
    • Depression Symptoms of Chiari in babies and children may vary somewhat and can include: Feeding problems including swallowing difficulties, excessive drooling, gagging, vomiting and irritability during feeding Weak cries Arm weakness Breathing problems[migraine.com]
    Vocal Cord Paralysis
    • cord paralysis associated with meningomyelocele and the arnold‐chiari malformation - MD Graham - The Laryngoscope, 1963 - Wiley Online Library Arnold-Chiari malformation and nystagmus of skew - C Pieh, I Gottlob - Journal of Neurology, Neurosurgery &[symptoma.com]
    • Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA.[fpnotebook.com]
    • Aspiration from bilateral abductor vocal cord paralysis or central neural dysfunction, or both.[patient.info]
    • Neurologic examination showed nistagmus, tongue twitching, dysarthria, dizziness, walking ataxia, severe dysphagia and persistent bilateral abductor vocal cord paralysis.[mrmjournal.biomedcentral.com]
    • Victims may also exhibit vocal cord paralysis and episodes of apnea (a cessation of breathing sometimes requiring resuscitation).[healthofchildren.com]
    Syringobulbia
    • Introduction Magnetic resonance imaging (MRI) is a crucial diagnostic tool for men, women, and children with a diagnosis of Syringomyelia, Syringobulbia, Chiari Malformation, Scoliosis, and additional related pathology.[raredr.com]
    Platybasia
    • .- Case 18044HC. 18 yr. old male from Germany with DCT, basilar invagination, platybasia, retroflexed odontoid, cervicothoracic I.SM, atlas assimilation.[raredr.com]
    Syringomyelia
    Meningomyelocele
    • ), [MIM*207950] malformed posterior fossa structures associated with caudad traction and displacement of the rhombencephalon as caused by tethering of the spinal cord; may be accompanied in some cases by spina bifida and associated anomalies such as meningomyelocele[medical-dictionary.thefreedictionary.com]
    • Type I features similar, but less severe malformations and is without an associated meningomyelocele.[fpnotebook.com]
    • - D Alvarez, I Requena, M Arias, L Valdes - European , 1995 - Eur Respiratory Soc Association of Chiari I malformation and Williams syndrome - BR Pober, JJ Filiano - Pediatric neurology, 1995 - Elsevier Bilateral vocal cord paralysis associated with meningomyelocele[symptoma.com]
    • A third of patients with meningomyelocele develop brain stem dysfunction by the age of 5 years and a third of these die in infancy.[patient.info]
    • It is one of the causes of hydrocephalus and is usually accompanied by spina bifida and meningomyelocele.[whonamedit.com]
    Hydrocephalus
    • Associations spinal syringohydromyelia scoliosis segmentational anomalies : 50% 7 Klippel-Feil syndrome atlanto-axial assimilation diastematomyelia cerebral dysgenesis of corpus callosum absent septum pellucidum obstructive hydrocephalus fenestration[radiopaedia.org]
    • About hydrocephalus Normal pressure hydrocephalus Endoscopic ventriculostomy Hyperhidrosis About hyperhidrosis Axillary hyperhidrosis Facial hyperhidrosis-facial blushing Palmar hyperhidrosis Plantar hyperhidrosis Minnimaly invasive spinal surgery About[neuros.net]
    • Surgery can address symptoms such as headache, hydrocephalus, sleep apnea and others.[hopkinsmedicine.org]
    • CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q00-Q07 Congenital malformations of the nervous system › Q07- Other congenital malformations of nervous system › Arnold-Chiari syndrome without spina bifida or hydrocephalus[icd10data.com]
    • Chiari malformations are often associated with myelomeningocele , hydrocephalus , syringomyelia , and tethered cord syndrome.[medlink.com]
    Epilepsy
    • ADHD -- Undiagnosed Alzheimer Disease -- Undiagnosed Migraine -- Undiagnosed Concentration Disorders -- Undiagnosed Stroke -- Undiagnosed Bipolar Disorder -- Undiagnosed Schizophrenia -- Undiagnosed Epilepsy -- Undiagnosed more undiagnosed conditions.[rightdiagnosis.com]
    • […] brain biopsy Glioblastoma multiforme Cushing Syndrome Photodynamic therapy Brachial plexus injuries Chronic sacro-ileitis Degenerative discal disease About degenerative discal disease Cervical and lumbar discal prosthesis Full lumbar discal prosthesis Epilepsy[neuros.net]
    • Six-year-old Allie Barone had been suffering from severe headaches for a few years — and since her family has a history of epilepsy and migraines, her mother, Stephanie, decided it was finally time to see a specialist.[foxnews.com]
    Obstructive Hydrocephalus
    • It may be associated with stenosis of the aqueduct of Sylvius with obstructive hydrocephalus, and atrophy of the brain tissue.[whonamedit.com]
    • Associations spinal syringohydromyelia scoliosis segmentational anomalies : 50% 7 Klippel-Feil syndrome atlanto-axial assimilation diastematomyelia cerebral dysgenesis of corpus callosum absent septum pellucidum obstructive hydrocephalus fenestration[radiopaedia.org]
    • Obstructive hydrocephalus and blockade of CSF flow lead to syrinx formation, eventually leading syringomyelia.[dx.doi.org]

    Etiology

    The causes of Chiari malformations are categorized into primary and secondary. Primary CM can occur with the structural defects in the brain or the spinal cord during the fetal development either due to lack of the proper nutrient in the maternal diet (during development) or genetic mutations. Hence, this is called primary or congenital CM. Primary CM is more common than the secondary CM. When the CM occurs later in life, it is called secondary or acquired CM. This can happen if there is an excessive drainage of the spinal fluid from the lumbar or thoracic areas of the spine which can occur either because of injury or infection.

    Depending on the severity of the CM and the parts of the brain affected, Chiari malformation can be divided into type I, type II, type III and type IV.

    • In type I CM, there is an extension of the lower parts of cerebellum into the foramen magnum and may not cause many symptoms. It is the common type, often noticed in adolescence.
    • Type II is also referred to as classic CM. This involves the extension of both the cerebellar and brain tissues. Arnold Chiari malformation is often used to specifically refer to type II malformation.
    • The most serious type of CM is type III. In this, the brainstem and the cerebellum protrude through the foramen magnum into the spinal cord. This type of ACM causes the most severe neurological defects.
    • In type IV CM, there is an incomplete or underdeveloped cerebellum.
    • In recent times, type 0 CM is also included in the classification. In Type 0, though there is no protrusion of the cerebellum, the patient may experience symptoms that mimic that of CM.

    Primary type I CM is also attributed to the linkages to chromosomes 9 and 15. It is suggested that the disorder occurs in the para-axial mesoderm, resulting in the formation of the smaller posterior fossa. There are other theories regarding the cause of Arnold Chiari Malformation, one of the interesting one is called “CSF loss theory”. According to this hypothesis, there is an escape of the fluid in the myelomeningocele which results in inadequate stimuli of the mesenchymal condensation at the base of the skull.

    Epidemiology

    Earlier it was believed that CM occurred one in every 1,000 births. With the development of the diagnostic imaging in the past few decades, the occurrence is found to be more common. Today CM may reach up to 5 cases per 1000 births with female predominance over male subjects [1]. Since, there are cases where the child born with ACM does not show symptoms until they reach adolescence, the exact epidemiological profile of the disease is still not known. The disorder is more common among women than men. Type II malformations are more prevalent among the different types of CM.

    Sex distribution
    Age distribution

    Pathophysiology

    The pathophysiological complications that lead to the consequences of this malformation can be due to the following:

    1. Compression of the medulla, upper spinal cord and/or cerebellum. The complications associated with the medulla and the cord can result into myelopathy and nuclear dysfunction. Ataxia and nystagmus or loss of equilibrium is associated with the compression of the cerebellum.
    2. Disruption of the flow of the CSF through the foramen magnum causes the symptoms of pain which are associated with CM.

    Prevention

    There are no preventive measures to combat Arnold Chiari malformation; genetic counseling can prove beneficial to the parents of the child to determine the risk in future children.

    Summary

    Chiari malformations (CM) are a group of congenital abnormalities that affect the hindbrain. In the CMs, the part of the cerebellum is located below the foramen magnum in the brain, and may develop when the bony space is smaller than the normal, causing the brainstem to be pushed downward to the foramen magnum. The pressure that ensues due to this structural deformity on the cerebellum and brainstem affects the functions, blocking the flow of cerebrospinal fluid (CSF).

    Patient Information

    Patients with Arnold Chiari malformation (ACM) generally do not show any symptoms, therefor the condition is often diagnosed during the course of diagnosis for another disorder. However, there may be symptoms such as headache, dizziness, vomiting and nausea. Medical and surgical options are available for the treatment of this disorder.

    Other symptoms

    Numbness
    • Symptoms include dizziness, muscle weakness, numbness, vision problems, headaches, and difficulty with balance and coordination.[disabilitysecrets.com]
    • Numbness or weakness in the hands and arms.[gillettechildrens.org]
    • This buildup can block communication of the brain's messages to the body and cause headaches, pain, numbness, and weakness.[kidshealth.org]
    • These may include unsteadiness, vertigo, headache, weakness or numbness.[american-hearing.org]
    • Some people with Chiari might have cranial nerve compression, something that may result in apnea, swallowing difficulties, gagging, temporary loss of consciousness, or facial numbness.[disabled-world.com]

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    References

    1. Speer MC, Enterline DS, Mehltretter L, Hammock P, Joseph J, Dickerson M, et al. Chiari type I malformation with or without syringomyelia: prevalence and genetics. J Genet Couns. 2003; 12:297-311.
    2. Yanik B; Tuncer S; Seçkin B. Neuropathic arthropathy caused by Arnold-Chiari malformation with syringomyelia.Rheumatol Int. 2004; 24(4):238-41 (ISSN: 0172-8172)
    3. Tsara V; Serasli E; Kimiskidis V; Papagianopoulos S; Katsaridis V; Fylaktakis M; Christaki P; Kazis A. Acute respiratory failure and sleep-disordered breathing in Arnold-Chiari malformation.Clin Neurol Neurosurg. 2005; 107(6):521-4 (ISSN: 0303-8467)
    4. Unal M; Bagdatoglu C. Arnold-Chiari type I malformation presenting as benign paroxysmal positional vertigo in an adult patient. J Laryngol Otol. 2007; 121(3):296-8 (ISSN: 1748-5460)
    5. Chaouch N; Meraï S; Cheikh Rouhou S; Ben Romdhane K; Ben Mrad S; Besbes M; Tritar F. [Acute respiratory failure as the sol inaugural sign of Arnold-Chiari malformation. Two cases] Rev Pneumol Clin. 2007; 63(5 Pt 1):319-22 (ISSN: 0761-8417)
    6. Khan AA; Bhatti SN; Khan G; Ahmed E; Aurangzeb A; Ali A; Khan A; Afzal S. Clinical and radiological findings in Arnold Chiari malformation. J Ayub Med Coll Abbottabad. 2010; 22(2):75-8 (ISSN: 1025-9589)
    7. McGirt MJ, Nimjee SM, Fuchs HE, George TM. Relationship of cine phase-contrast magnetic resonance imaging with outcome after decompression for Chiari I malformations. Neurosurgery. Jul 2006;59(1):140-6; discussion 140-6.
    8. Takigami I; Miyamoto K; Kodama H; Hosoe H; Tanimoto S; Shimizu K. Foramen magnum decompression for the treatment of Arnold Chiari malformation type I with associated syringomyelia in an elderly patient. Spinal Cord. 2005; 43(4):249-51 (ISSN: 1362-4393)

    • Association of Chiari I malformation and Williams syndrome - BR Pober, JJ Filiano - Pediatric neurology, 1995 - Elsevier
    • A deformity of the hind-brain associated with internal hydrocephalus. Its relation to the Arnold-Chiari malformation - AA McCONNELL, HL Parker - Brain, 1938 - Oxford Univ Press
    • Cervicomedullary compression in achondroplasia - TC Ryken, AH Menezes - Journal of neurosurgery, 1994 - thejns.org
    • Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients - TH Milhorat, MW Chou, EM Trinidad, RW Kula - , 1999 - journals.lww.com
    • Acute respiratory failure as the first sign of Arnold-Chiari malformation associated with syringomyelia - D Alvarez, I Requena, M Arias, L Valdes - European , 1995 - Eur Respiratory Soc
    • Atresia of the fourth ventricle in adults: Arnold-Chiari malformation, Dandy-Walker syndrome, arachnoid cyst of the cerebellum, and syringomyelia. - WJ Gardner, AF Abdullah - Journal of neurosurgery, 1957 - ncbi.nlm.nih.gov
    • Arnold-chiari malformation - KS Paul, RH Lye, FA Strang, J Dutton - Journal of neurosurgery, 1983 - thejns.org
    • Arnold-Chiari malformation with normal spine and cranium - P TENG, C PAPATHEODOROU - Archives of Neurology, 1965 - Am Med Assoc
    • 'Sneeze syncope', basilar invagination and Arnold-Chiari type I malformation. - JJ Corbett, AB Butler, B Kaufman - Journal of Neurology, , 1976 - jnnp.bmj.com
    • Acquired esotropia as initial manifestation of Arnold-Chiari malformation. - WW Bixenman, JF Laguna - Journal of pediatric ophthalmology and , 1987 - ukpmc.ac.uk
    • Bilateral vocal cord paralysis associated with meningomyelocele and the arnold‐chiari malformation - MD Graham - The Laryngoscope, 1963 - Wiley Online Library
    • Acute respiratory failure as the first sign of Arnold-Chiari malformation associated with syringomyelia - D Alvarez, I Requena, M Arias, L Valdes - European , 1995 - Eur Respiratory Soc
    • Arnold-Chiari malformation and nystagmus of skew - C Pieh, I Gottlob - Journal of Neurology, Neurosurgery & Psychiatry, 2000 - jnnp.bmj.com

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