Spotlight On

Chiari Malformations

Chiari malformations are a group of complex brain abnormalities that affect the area in lower posterior skull where the brain and spinal cord connect

Prevalence

~50–100 / 100,000

US Estimated

~10–50 / 100,000

Europe Estimated

Age of Onset

Childhood - Adolescence

ICD-10

Q07.0

Inheritance Pattern

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Arnold–Chiari malformation is a malformation of the skull

FACT

It is usually caused by structural defects in the brain and spinal cord that occur during fetal development

FACT

It consists of a downward displacement of the cerebellar tonsils through the foramen magnum

FACT

The cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain

FACT

Headache is the hallmark sign of Chiari malformation, especially after sudden coughing, sneezing, or straining

Interest over time

Google searches

Chiari Malformation is also known as...

Chiari Malformation is also known as:

CM
Arnold- Chiari malformation

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Common signs & symptoms

Occipital or suboccipital headaches, classically worsened by Valsalva maneuvers (coughing, sneezing, straining)

Neck pain and cervical stiffness

Dizziness, vertigo, or balance disturbances

Sensory abnormalities, including numbness or paresthesias in the upper extremities

Weakness or coordination difficulties

Cranial nerve–related symptoms, such as dysphagia, dysarthria, or hoarseness

Sleep-disordered breathing, including central sleep apnea (in some patients)

Symptoms related to syringomyelia, when present (e.g., cape-like sensory loss, motor deficits)

Current treatments

Observation and clinical monitoring for asymptomatic or mildly symptomatic patients

Symptomatic management, including analgesics and physical therapy when appropriate

Posterior fossa decompression surgery (with or without duraplasty) for patients with significant symptoms, cerebrospinal fluid flow obstruction, or progressive neurological deficits

Management of associated conditions, such as syringomyelia or hydrocephalus, when present

See full disease profile

Rare Medical News

Rare Medical News

Chiari Malformations

Prevalence

Childhood - Adolescence

Q07.0

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

Interest over time

Chiari Malformation is also known as...

Chiari Malformation is also known as:

Common signs & symptoms

Occipital or suboccipital headaches, classically worsened by Valsalva maneuvers (coughing, sneezing, straining)

Neck pain and cervical stiffness

Dizziness, vertigo, or balance disturbances

Sensory abnormalities, including numbness or paresthesias in the upper extremities

Weakness or coordination difficulties

Cranial nerve–related symptoms, such as dysphagia, dysarthria, or hoarseness

Sleep-disordered breathing, including central sleep apnea (in some patients)

Symptoms related to syringomyelia, when present (e.g., cape-like sensory loss, motor deficits)

Current treatments

Observation and clinical monitoring for asymptomatic or mildly symptomatic patients

Symptomatic management, including analgesics and physical therapy when appropriate

Posterior fossa decompression surgery (with or without duraplasty) for patients with significant symptoms, cerebrospinal fluid flow obstruction, or progressive neurological deficits

Management of associated conditions, such as syringomyelia or hydrocephalus, when present