TYPES AND CAUSES 
A TO Z OF TERMS 
DIAGNOSIS 
TREATMENT OPTIONS 
YOUR TREATMENT TEAM 
FOR PARENTS 
FOR TEENS 
FOR ADULTS 
Diagnosis
Hydrocephalus can be diagnosed using a combination of imaging tests and clinical evaluations.
Clinical evaluation is an important component in the diagnosis of hydrocephalus. The doctor may perform a physical exam and ask questions about symptoms, medical history, and family history to help diagnose hydrocephalus.
Clinical evaluation
During a physical exam, the doctor may look for signs of increased pressure inside the skull, such as bulging of the fontanelles in infants or swelling of the optic nerves. The doctor may also check for other signs of hydrocephalus, such as:
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Headache: One of the most common symptoms of hydrocephalus is a headache that worsens over time.
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Nausea and vomiting: Increased intracranial pressure can lead to nausea and vomiting.
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Vision problems: Hydrocephalus can cause vision changes, such as double vision, blurred vision, or difficulty with peripheral vision.
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Seizures: Seizures can be a sign of hydrocephalus, especially if they are new or worsen over time.
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Cognitive impairment: Hydrocephalus can cause changes in cognitive function, including memory problems, difficulty with concentration, and personality changes.
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Balance problems: Hydrocephalus can affect a person's balance and coordination, making them more prone to falls.
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Delayed development: In infants, hydrocephalus can cause delayed development, including delays in sitting up, crawling, and walking.
Clinical evaluation is particularly important in diagnosing normal pressure hydrocephalus (NPH), which can be difficult to diagnose using imaging alone. NPH can cause symptoms that are similar to other conditions, such as Parkinson's disease or Alzheimer's disease, so a thorough clinical evaluation is necessary to make an accurate diagnosis.
Imaging tests
The doctor may also order a series of tests to help diagnose hydrocephalus, such as neurological exams, cognitive tests, and imaging studies like MRI, CT scans or ultrasound.
Ultrasound
Ultrasound is a valuable tool in diagnosing hydrocephalus and can provide important information about the size and shape of the brain's ventricles, which can aid in the development of an appropriate treatment plan.
Ultrasound uses high-frequency sound waves to create images of the brain and can be performed quickly and non-invasively.
In infants, ultrasound can be used to evaluate the size and shape of the brain's ventricles, which can indicate the presence of hydrocephalus. If the ventricles are enlarged, this may indicate that there is an obstruction in the flow of cerebrospinal fluid (CSF) or a problem with the absorption of CSF. Ultrasound can also be used to monitor the progression of hydrocephalus over time.
Ultrasound is also used to monitor the development of hydrocephalus during pregnancy. In some cases, hydrocephalus can be detected during routine prenatal ultrasounds, which allows for early detection and intervention. This can help reduce the risk of complications and improve outcomes for both the mother and the baby.
MRI (Magnetic Resonance Imaging)
Magnetic Resonance Imaging (MRI) is a powerful diagnostic tool that can be used to diagnose hydrocephalus and to evaluate the severity and underlying causes of the condition. MRI is a non-invasive imaging test that uses a powerful magnetic field and radio waves to create detailed images of the brain and other structures in the body.
MRI can provide more detailed images of the brain than ultrasound or other imaging techniques, making it particularly useful in diagnosing hydrocephalus in adults and older children. MRI can show the size and shape of the ventricles, which can help to determine the severity of the hydrocephalus and the extent of brain damage.
MRI can also be used to identify the underlying cause of hydrocephalus, such as a tumor, infection, or injury. MRI can detect abnormalities in brain tissue, blood vessels, and other structures that may be contributing to the hydrocephalus.
In addition to providing diagnostic information, MRI can be used to monitor the progression of hydrocephalus over time and to evaluate the effectiveness of treatment. For example, an MRI may be used to determine if a shunt, which is a common treatment for hydrocephalus, is working properly.
CT (Computed Tomography) scan
This is a non-invasive imaging test that uses X-rays and computer technology to create cross-sectional images of the brain. It can help identify any structural abnormalities or damage to the brain tissue.
CT scan is often used as an initial imaging test in emergency situations or when urgent evaluation is required. It can quickly provide a detailed image of the brain and can help identify other conditions that may mimic the symptoms of hydrocephalus.
CT scan is less sensitive than MRI in detecting some causes of hydrocephalus, such as subtle brain abnormalities or abnormalities in the CSF flow. However, CT scan can still provide important diagnostic information and may be useful in situations where MRI is not available or cannot be performed.
Genetic testing
Genetic testing can be useful in diagnosing hydrocephalus in cases where the condition is suspected to be caused by a genetic mutation or inherited disorder. Hydrocephalus can be caused by a variety of genetic conditions, including X-linked hydrocephalus, Dandy-Walker malformation, and congenital aqueductal stenosis.
Genetic testing involves analysing a sample of the patient's DNA to look for mutations or abnormalities in specific genes that are known to be associated with hydrocephalus. Genetic testing can be performed using a variety of techniques, including targeted gene sequencing, chromosomal microarray analysis, and whole-exome sequencing.
Genetic testing can help to confirm a diagnosis of hydrocephalus and to identify the underlying genetic cause of the condition. This information can be useful in determining the prognosis for the individual and in guiding treatment decisions.
In addition, genetic testing can help identify family members who may be at risk for developing hydrocephalus or carrying a genetic mutation that increases the risk of the condition. This information can be used to provide genetic counselling and to help families make informed decisions about family planning. However, genetic testing is not always necessary or appropriate for every individual with hydrocephalus and should be done in consultation with a genetic counselor or geneticist.
Lumbar Puncture
