Question

    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].

    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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  • Entire body system
    Developmental Delay
    • It is typically brought to light after a child begins exhibiting developmental delays and the parent seeks medical care.[neurosurgerycnj.com]
    • Developmental delays may require further medical follow up for underlying problems.[urmc.rochester.edu]
    • 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]
    • Children and infants may show symptoms such as difficulty in swallowing and excessive drooling, weakness in arms, breathing problems and developmental delays.[symptoma.com]
    Epilepsy
    • Living with epilepsy is a daily struggle and it turns your life upside down.[pinterest.com]
    • ADHD -- Undiagnosed Alzheimer Disease -- Undiagnosed Migraine -- Undiagnosed Concentration Disorders -- Undiagnosed Stroke -- Undiagnosed Bipolar Disorder -- Undiagnosed Schizophrenia -- Undiagnosed Epilepsy -- Undiagnosed more undiagnosed conditions.[rightdiagnosis.com]
    • 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]
    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]
    • There are abnormal feelings in the extremities, muscle weakness and balance troubles.[symptoma.com]
    • In the six months prior to admission, her lower extremities became increasingly weak and she fell more often.[archneur.jamanetwork.com]
    • Symptoms Decreased strength and/or sensation in the arms and legs Balance and coordination problems Neck stiffness or pain Headache Dizziness Rapid eye movement Poor feeding and swallowing Weak cry or speech difficulties Respiratory problems Developmental[neurosurgerycnj.com]
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  • neurologic
    Ataxia
    • Headache, vomiting, visual disturbances, diplopia; mental dullness, lack of coordination, paralysis of extremities, cerebellar ataxia, and sensory disorders Aetiology unknown.[whonamedit.com]
    • Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA.[fpnotebook.com]
    • Neurologic examination showed nistagmus, tongue twitching, dysarthria, dizziness, walking ataxia, severe dysphagia and persistent bilateral abductor vocal cord paralysis.[mrmjournal.biomedcentral.com]
    • Ataxia and nystagmus or loss of equilibrium is associated with the compression of the cerebellum.[symptoma.com]
    • […] 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]
    Babinski Sign
    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]
    Dizziness
    • It isn’t effective for all cases of dizziness or headaches.[disability-benefits-help.org]
    • Symptoms Decreased strength and/or sensation in the arms and legs Balance and coordination problems Neck stiffness or pain Headache Dizziness Rapid eye movement Poor feeding and swallowing Weak cry or speech difficulties Respiratory problems Developmental[neurosurgerycnj.com]
    • Some patients with Chiari develop symptoms (dizziness mainly) on straining.[dizziness-and-balance.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]
    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]
    • 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]
    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]
    • Neurologic examination showed nistagmus, tongue twitching, dysarthria, dizziness, walking ataxia, severe dysphagia and persistent bilateral abductor vocal cord paralysis.[mrmjournal.biomedcentral.com]
    • 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]
    Headache
    • Should the presence of an Arnold-Chiari malformation be suspected in a headache patient, the patient should be referred for an MRI of the region.[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]
    • It was during a recent MRI for Uchitel’s frequent headaches and back pain that her doctor discovered the type 1 malformation, thus prompting her to schedule surgery.[medicaldaily.com]
    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]
    • Worsening of the conditions of this malformation leads to insomnia, sleep apnea, persistent headache and depression.[symptoma.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]
    Irritability
    • 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]
    • 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]
    Nystagmus
    • Positional nystagmus is common.[dizziness-and-balance.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]
    • Visually relevant manifestation of Type I include papilledema, optic atrophy, headaches, diplopia, and nystagmus.[aaopt.org]
    • 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]
    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]
    Paresthesia
    • […] 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]
    • Symptoms including headaches, neck and shoulder pain, paresthesia, loss of pain and temperature sensation in the upper extremities, and unsteady gait are the usual manifestations seen during early adolescence into adulthood.[hindawi.com]
    • 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]
    Vertigo
    • Adult patients with type 1 CM, may initially present with benign paroxysmal vertigo and could be confused as a trivial benign positional vertigo.[symptoma.com]
    • These may include unsteadiness, vertigo, headache, weakness or numbness.[american-hearing.org]
    • Thus the Chiari can cause cervical vertigo.[dizziness-and-balance.com]
    • Balance difficulties, vertigo and dizziness also may be present.[asap.org]
    • Since the age of 35, the patient had experienced headaches, oculomotor symptoms like blurred vision and diplopia, tinnitus and vertigo.[f1000research.com]
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  • respiratoric
    Aspiration
    • In our patient recurrent aspirations with consequent inhalation pneumonia occurred.[mrmjournal.biomedcentral.com]
    • Recurrent pneumonia from aspiration.[patient.info]
    • Aspiration of the epidural catheter and test dose of lidocaine 1.5% with epinephrine 1 : 200,000 were negative.[hindawi.com]
    Cough
    • 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]
    • Symptoms Pain, especially headache in the back of the head, aggravated by coughing and straining.[neurosurgery.ucla.edu]
    • The pain is often made worse or can be brought on by coughing, sneezing or straining.[asap.org]
    • To diagnose this malformation, your doctor may use the following tests: Physical examination X-ray CT scan MRI scan Symptoms of Arnold Chiari Malformation Symptoms of an Arnold-Chiari malformation may include: Headaches, often made worse by coughing,[barrowneuro.org]
    Hoarseness
    • It also can cause a hoarseness in the voice.[youtube.com]
    • 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]
    • Another common complaint linked with Arnold-Chiari malformations is hoarseness.[encyclopedia.com]
    • […] 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 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]
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  • gastrointestinal
    Dysphagia
    • The most important mechanism of recurrent aspiration pneumonia was dysphagia[ 14 ].[mrmjournal.biomedcentral.com]
    • Dysphagia or nasal regurgitation.[patient.info]
    • 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]
    • General symptoms and signs include headaches, dizziness, tinnitus, visual or oculomotor symptoms, dysphagia, trunk or extremity dysesthesias, ataxia and drop attack 4 .[f1000research.com]
    • There was no history suggestive of trauma, dysphagia, change in voice and change in bowel or bladder habits.[apicareonline.com]
    Nausea
    • However, there may be symptoms such as headache, dizziness, vomiting and nausea.[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]
    • 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]
    • If you feel nausea or headache after surgery, medication can be given.[mayfieldchiaricenter.com]
    Vomiting
    • However, there may be symptoms such as headache, dizziness, vomiting and nausea.[symptoma.com]
    • They may also complain of ringing in the ears, hearing loss, vomiting, depression, and difficulty using their hands.[princetonbrainandspine.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]
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  • musculoskeletal
    Muscle Spasticity
    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
    • Symptoms including headaches, neck and shoulder pain, paresthesia, loss of pain and temperature sensation in the upper extremities, and unsteady gait are the usual manifestations seen during early adolescence into adulthood.[hindawi.com]
    • . • Ice packs for 20 minutes can help relieve neck and shoulder pain and muscle spasms.[mayfieldchiaricenter.com]
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  • Eyes
    Blurred Vision
    • Other complaints that may be noted in these patients are nausea and vomiting, dysarthria, intermittent blurred vision, diplopia, and ataxic gait.[dynamicchiropractic.com]
    • Visual problems such as nystagmus (involuntary eye movements), double or blurred vision may occur.[asap.org]
    • 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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  • Ears
    Hearing Impairment
    • Vertigo, dizziness, ringing in the ears (tinnitus) and bilateral hearing impairment can also develop.[rarediseases.org]
    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]
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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

    Central Sleep Apnea
    Depression
    • Some common symptoms include headaches, dizziness, sleep and vision problems, and depression.[stanfordchildrens.org]
    • Life with Fibromyalgia/ Chronic Illness / Chronic Pain/ Depression /Anxiety 18 Memes That Nail What It's Like to Live With Chronic Illness chronic illness meme: when i'm trying to keep all my conditions in check.[pinterest.com]
    • […] 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]
    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]
    • Surgery can address symptoms such as headache, hydrocephalus, sleep apnea and others.[hopkinsmedicine.org]
    • Chiari malformations are often associated with myelomeningocele , hydrocephalus , syringomyelia , and tethered cord syndrome.[medlink.com]
    • Hydrocephalus (typically due to aqueductal stenosis).[neurosurgery.ucla.edu]
    • When cerebrospinal fluid doesn't flow properly, it can cause hydrocephalus (a buildup of cerebrospinal fluid in the brain and spinal cord).[kidshealth.org]
    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]
    • […] ke-ah're Definition: 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[drugs.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]
    • It is one of the causes of hydrocephalus and is usually accompanied by spina bifida and meningomyelocele.[whonamedit.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]
    Platybasia
    • .- Case 18044HC. 18 yr. old male from Germany with DCT, basilar invagination, platybasia, retroflexed odontoid, cervicothoracic I.SM, atlas assimilation.[raredr.com]
    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]
    • Scoliosis is a bending of the spine in different directions affecting the curvature of the spine.[princetonbrainandspine.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]
    • 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
    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]
    • This can result in apnea (cessation of breathing), gagging, swallowing difficulties, facial numbness or syncope (temporary loss of consciousness).[asap.org]
    • Presentation in childhood or adolescence Syncope.[patient.info]
    • 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]
    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]
    Syringomyelia
    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]
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  • 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.

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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)

    • Arnold-Chiari malformation with normal spine and cranium - P TENG, C PAPATHEODOROU - Archives of Neurology, 1965 - Am Med Assoc
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    • Cervicomedullary compression in achondroplasia - TC Ryken, AH Menezes - Journal of neurosurgery, 1994 - thejns.org

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