Chiari Malformation: Causes, Symptoms, and Treatments

Chiari malformations are structural abnormalities in which the skull presses on brain tissue at its base. The result can be seen as an extension of the spinal cord into your head, causing intense pressure that leads to severe headaches. However, since it is a progressive brain disorder, it is necessary to know its primary causes for better treatment.

Generally, Chiari malformation is a consequence of structural defects in the CNS that develop during fetal development. The indented bony space at the cranial floor is born abnormally small due to a lack of nutritious maternal diet or genetic mutations, thus leading to Chiari malformation.

However, Chiari malformation causes depend upon the development of the disease, whether it is Primary or secondary!

Let’s explore!

Chiari Malformation Causes

Generally, Chiari malformations are a type of structural defect affecting the parts of the brain, particularly the cerebellar hemispheres, that control balance and movements. However, it might affect speech and vision as well.

Therefore, since it is a neurological disorder, it is necessary to know its primary causes for improved and profound treatment.

chiari-malformation-causes

However, the causes of Chiari malformation depend upon the stage of its development. If it occurs during fetal development, then it is called a primary or congenital Chiari malformation. However, it can also occur during adulthood, termed secondary Chiari malformation.

Causes of Primary or Congenital Chiari Malformation:

Significant causes of primary Chiari malformation (CM) are as follows;

  • Genetic mutations that lead to fetal abnormality.
  • Lack of nutrients in maternal diet, particularly lack of folic acid and essential multivitamins and minerals, affects fetal development.
  • Infection during pregnancy might contribute to abnormal fetal development.
  • High fever can also lead to congenital Chiari malformation.
  • Alcohol accumulation might affect fetal development.
  • Exposure to illegal drugs or hazardous chemicals can also cause primary Chiari malformation.

Causes of Secondary Chiari Malformation:

Secondary Chiari malformation is usually a consequence of trauma or injury in adulthood. 

However, some primary causes include;

  • Accident or infection due to which spinal fluid drains out from the spinal canal.
  • Disorders that lead to cerebrospinal fluid (CSF) leakage at the spinal level can cause secondary Chiari malformation.
  • Rarely an enlarged spinal arachnoid-villi-like structure can cause excessive CSF absorption.

Types of Chiari Malformation

Generally, Chiari malformations are structural defects in the brain that is a consequence of the downward displacement of one or more cerebellar tonsils through the largest foramen at the cranial floor, the foramen magnum.

chiari-malformation

However, as a result, the brain’s signals to your body get interrupted. This is because it may cause fluid buildup or pressure on the top of nerves, resulting in several neurological disorders along with muscle defects affecting balance and coordination, among other things.

Different Types of Chiari Malformation with Types, Presentation, and Clinical Features:

TypesPresentationClinical Features
0Type 0 of Chiari malformation is the most controversial as it isn’t associated with cerebellar tonsils herniation. However, there is an occurrence of syringohydromyelia without herniation.Headaches, leg pain, back pain, hand numbness, or weakness.
1Type 1 affects the lower part of the brain, particularly the cerebellar tonsils, without affecting the brain stem. Moreover, it is a condition that can develop during the development years of your child’s brain.Syringomyelia of the cervicothoracic spinal cord, unsteady gait during childhood, neck pain, and headaches.
1.5Caudal descent of the brain stem along with the features of Type I.Similar to Type I
2More significant cerebellar vermian displacement or herniation, contrary to the tonsillar herniation. Moreover, it involves cerebellar tissue as well as brainstem tissue.Furthermore, it is also termed Arnold Chiari Malformation.Low-lying torcular herophili, tectal beaking, hydrocephalus, paralysis below spina bifida defect, colpocephaly due to neural tube defect.
3Type 3 is comparatively more serious than orders, although rare. Besides, the brain tissue usually outstretches into the spinal canal. However, some parts of the brain may protrude as well. Moreover, it is also associated with occipital encephalocele and hydrocephalus. Syringomyelia, tethered cord, and several neurological deficits, out of which hydrocephalus is common.
3.5The only representation believed to signify Type 3.5 is occipitocervical encephalocele in communication to the stomach. However, no more information exists.Not compatible with life.
4Fatal in infancy because of lack of cerebellar development. Furthermore, the cerebellum and brain stem are present in the posterior fossa without correspondence with the foramen magnum.Not compatible with life.
5The cerebellum doesn’t develop. Moreover, it is associated with myelomeningocele.Occipital lobe ectopia.

Symptoms of Chiari Malformation

Chiari malformation’s symptoms depend upon the defect’s severity. Moreover, severity depends upon the degree of brain tissue displacement into the spine.

However, people with different types of Chiari malformations can have several symptoms, depending upon the severity of the disorder, amount of fluid build-up, and pressure exerted by the brain on tissue and nerves.

However, some common symptoms include;

  • Improper balance and coordination
  • Difficult vision and speech
  • Dizziness
  • Back pain
  • Neck pain
  • Difficult walking
  • Numbness in hands and feet
  • Trouble eating
  • Hearing loss
  • Loss of pain, pressure, and temperature sensation
  • Weakness in upper body
  • Spinal curvature
  • Slower heartbeat
  • Abnormal breathing

Chiari Malformation Symptoms in Infants:

Besides its general symptoms, some common symptoms in infants are as follows;

  • Neurogenic dysphagia (trouble swallowing)
  • Bluish skin discoloration (Cyanosis)
  • Aspiration
  • Weak crying
  • Facial weakness
  • Irritable eating
  • Excessive drooling
  • Vomiting
  • Impaired gag reflex
  • Restless leg syndrome
  • Increased intracranial pressure
  • Sleep apnea
  • Pupil dilation
  • Dysautonomia
  • Polydipsia
  • Stiff neck
  • Abnormal development
  • Loss of arm strength
  • Seizures
  • Enlarged head

Complications of Chiari Malformation

Chiari malformations are pretty common, but they can become progressive and lead to severe complications in some people. 

In contrast, others may have no associated symptoms that require treatment or intervention.

However, some severe complications of Chiari malformation are as follows;

  • Occipital headaches
  • Migraines
  • Hydrocephalus (excess fluid accumulation in the brain), often associated with Chiari malformation Type II
  • Myelomeningocele or Spina bifida
  • Tethered spinal cord syndrome (spinal cord attachment with the spine’s bone)
  • Syringomyelia (development of syrinx in the spinal cord)
  • Spinal curvature mainly corresponding with Chiari malformation Type I
  • Ehlers-Danlos syndrome
  • Marfan syndrome

How is Chiari Malformation Diagnosed?

Usually, Chiari malformation is diagnosed via MRI (magnetic resonance imaging).

However, some other tests to diagnose CM are as follows;

  • X-rays of the head and neck
  • CT scans of the head and neck
  • Myelography

How Can You Treat Chiari Malformation? Treatment Options

The treatments for Chiari malformation rely upon clinical signs rather than radiological findings.

Furthermore, surgery is usually advised for the superintendence of signs and symptoms.

However, if your Chiari malformation doesn’t interfere with your daily life and doesn’t pose any severe complications, your doctor might recommend therapeutics to ease the pain and discomfort.

Besides, your doctor will instruct you on surgery if your symptoms are complicated. However, treatment entirely depends upon the disease’s types, symptoms, and severity.

Therapy for Adults:

The surgeon removes the ostentatious part of the skull, relieving excessive pressure on the spinal canal. However, that part is then covered by either a patch or tissue.

Moreover, your surgeon might shrink the cerebellar tonsil through electric current. However, electric current is also helpful in creating more space by removing a small part of the spinal canal.

Treatment for Infants:

Infants or children with symptoms such as spina bifida require surgery for repositioning their spinal cord.

However, if the child is diagnosed with hydrocephalus, the doctor will recommend surgery to drain excess fluid from the brain while relieving pressure.

Therefore, surgery profoundly relieves symptoms of Chiari malformation in infants and children.

Things to Avoid with Chiari Malformation

To manage the symptoms of a Chiari malformation, you must avoid certain foods and drinks before bed. These include stimulants like caffeine or nicotine, which can make your head hurt more than usual due to their effect on our central nervous system.

Try eating something rich in amino acid tryptophan, such as milk-based products, since they provide nutrients necessary for healthy cell development while we sleep.

Moreover, some people may find a soft pillow more comfortable than one with hard edges. This can help you sleep better and alleviate symptoms like severe headaches like those migraines or occipital headaches, or severe cervical pain!

What Is the Life Expectancy for Chiari Malformation?

Although the condition is typically diagnosed in adulthood, patients with Chiari type I Malformation (the mildest one) have average life expectancies and good end results (upshots).

However, the life expectancies for patients suffering from Chiari malformation depend upon the severity and types of it.

chiari-malformation-types

Somehow, surgery or other treatments profoundly affect the patient’s life expectancies. However, people with Type I are normal with intelligence and reasonable life expectancies.

In contrast, if we talk about Type III or Type IV, they possess a high mortality rate, usually during infancy. Furthermore, Type IV is incompatible with life too!

What Happens When a Chiari Malformation Goes Untreated?

Chiari malformation is a brain disorder in which the normal flow of cerebrospinal fluid becomes occluded or obstructed. It can cause pressure within your head and lead to psychological disfigurement or an augmented skull with severe consequences like hydrocephalus.

However, hydrocephalus is a condition where water builds up in the brain, causing permanent damage. If left untreated, it can be deadly or life-threatening and occur with any type of Chiari malformation, particularly Arnold Chiari malformation Type II.

FAQs

Let’s check out some of the frequently asked questions.

Can Trauma Cause Chiari Malformation?

When a person sustains trauma to the head, it can cause an issue with their spine, resulting in Chiari Malformations. 

However, several studies suggest that a trauma or injury to the head (such as a whiplash, motor vehicle crash) is responsible for waking up previously undetected cases of Chiari malformation.

Therefore, such traumas can aggravate and worsen the painful symptoms of Chiari malformation.

Can an Epidural Cause Chiari Malformation?

The acquired Chiari I malformation can occur after a lumbar puncture or an unintentional wet tap following epidural anesthesia. 

However, it may also happen due to spontaneous CSF leakage linked with intracranial hypotension and could indicate more serious issues!

What do Chiari’s headaches feel like?

Occipital headaches are the most prevailing symptoms linked with Chiari malformations, which can be felt near the base of the skull.

Moreover, it radiates from the skull’s base towards the neck and shoulders. However, the pain can be aggravating, pulsating, or throbbing ranging from sharp to dull!

Final Verdict

Chiari malformation is a degenerative brain disorder that can severely affect the cerebellum and its functioning.

However, the Chiari malformation causes depend upon the time of its occurrence. It can be either primary (congenital) that occurs because of genetic mutations or secondary due to trauma or injury.

Moreover, the most common symptoms include occipital headaches, improper vision and speech, unpaired coordination, and improper balance.

Nevertheless, if left untreated, CM might lead to complications such as hydrocephalus, or other neural tube defects.

Therefore, it is necessary to follow precautions and treatment procedures, to avoid any progressive degeneration of the brain!

Minahil Laraib Asif

Minahil Laraib Asif

Hi, This is Minahil Laraib Asif, an MBBS student from Karachi Medical and Dental College (KMDC) in Pakistan. Studying medicine is my passion, and the desire to live my life in service to humanity has led me to pursue my career in medicine. As a medical student, it's essential to know how to balance projects and work while maintaining a healthy social life. Investigating and exploring newer disclosures has always been a source of gratification for me. For this reason, I have developed my career in writing articles as well, since it brings me great delight while researching various projects, and presenting such information to people, that they may otherwise never come across.

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