What are the other Names for this Condition? (Also known as/Symptoms)

• Antenatal Choroid Plexus Cyst
• CPC (Choroid Plexus Cyst)

What is Choroid Plexus Cyst? (Definition/Background Information)

• Choroid Plexus Cyst (CPC) is a benign cyst filled with cerebrospinal fluid that arises from the choroid plexus in the brain. It is a congenital presentation observed in between 1 in 50-100 newborn babies. Not all cases of CPC are considered to be a pathological condition, since in vast majority of cases, no significant signs and symptoms are seen
• The choroid plexus consists of a network of capillaries in the cerebral ventricles of the brain; it is responsible for the production of cerebrospinal fluid (CSF) and provides a protective blood-CSF barrier to the central nervous system
• Since, Choroid Plexus Cyst has been more commonly detected in fetuses with certain genetic (chromosomal) abnormalities, such as Edward syndrome or Down syndrome, during prenatal scans; the presence of large CPCs (and/or bilateral) on the radiological scan reports, serves as a potential indicator (warning sign) of such abnormalities during pregnancy
• In many cases, Choroid Plexus Cyst are diagnosed incidentally. Some large-sized cysts may cause obstructive hydrocephalus that may be accompanied by nausea, vomiting, and seizures
• Generally, there is no treatment necessary for a Choroid Plexus Cyst, since it is known to spontaneously resolve by its own in the third trimester. The prognosis is excellent in such cases and newborn babies are not affected. However, in case of any chromosomal disorders, then the outcomes depend on its severity

Who gets Choroid Plexus Cyst? (Age and Sex Distribution)

• Choroid Plexus Cysts are reportedly observed in 1-2% of the pregnancies (during ultrasound fetal scans)
• Both male and female babies are affected
• No specific racial or ethnic group predilection is noted

What are the Risk Factors for Choroid Plexus Cyst? (Predisposing Factors)

The following chromosomal conditions/genetic disorders are associated with Choroid Plexus Cysts:

• Aicardi syndrome
• Down syndrome (trisomy 21)
• Edwards syndrome (trisomy 18); it is the most commonly observed condition
• Klinefelter syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Choroid Plexus Cyst? (Etiology)

The cause of development of Choroid Plexus Cyst (CPC) is generally unknown. CPC is the most common form of an intraventricular cyst.

• The cells of the choroid plexus produce cerebrospinal fluid that fills and flushes the ventricular system, which are a complex network of interconnected cavities
• During fetal development and formation of the choroid plexus, some fluid gets trapped within it resulting in a blister-like formation that is termed Choroid Plexus Cyst. In most cases, these cystic lesions are considered as a normal part of brain development
• However, its close association with certain fetal chromosomal abnormalities, notably trisomy 18 syndrome, calls forth for more regular monitoring of the pregnancy

According to studies, a greater risk exists for trisomy 18 syndrome when the expectant mother’s age is over 32 years, cysts are larger than 1 cm in size, or if bilateral cysts are noted. In such cases these cysts may persist into adulthood causing signs and symptoms.

What are the Signs and Symptoms of Choroid Plexus Cyst?

Most of the Choroid Plexus Cysts are small-sized and present no signs and symptoms; they remain asymptomatic, particularly in adults. These range in size up to a few millimetres. Large cysts are usually over 1 cm and may rarely cause symptoms such as hydrocephalus. There is also a greater risk for association of large cysts with trisomy 18.

The cyst may be present anywhere in the ventricles, and most are under 20 mm in size. The signs and symptoms of Choroid Plexus Cyst may rarely include:

• Increased intracranial pressure may be observed if there is obstruction of the cerebrospinal fluid (CSF) drainage, since the ventricular system is affected. This may result in nausea, vomiting, headaches, and seizures
• Obstruction of the CSF also leads to increased size of the head with associated complications, a condition termed as obstructive hydrocephalus. In CPC, intermittent hydrocephalus may be noted

The signs and symptoms of any underlying disorders, such as trisomy 18 syndrome, may be noted (if present).

How is Choroid Plexus Cyst Diagnosed?

In many individuals, asymptomatic Choroid Plexus Cyst lesions are only diagnosed during certain radiological imaging studies of the head and neck region, which are performed for unrelated health conditions. In some cases, these cysts are incidental autopsy findings.

The healthcare provider may employ the following tests and exams to diagnose Choroid Plexus Cysts:

• Physical examination and complete medical history screening
• Assessment of the presenting signs and symptoms, if any
• Prenatal ultrasound scans, which are performed during pregnancy; usually the second trimester scans reveal the presence of cysts, if any present
• Amniocentesis: A medical procedure that involves removal of a small amount of amniotic fluid from the amnion for prenatal diagnosis; it may be performed if the healthcare provider suspects any genetic abnormalities
• Alpha fetoprotein (AFP) blood test in pregnancy: A screening test that is performed to determine the apparent risk for certain congenital abnormalities, such as spina bifida or chromosomal disorders
• Neurological, motor skills, and cognitive assessment:
  • Checking intellectual ability, memory, mental health and function, language skills, judgment and reasoning, coordination and balance, reflexes, and sensory perceptions (space, sight, hearing, touch, etc.)
  • The healthcare provider/neurologist may use the Karnofsky Performance Scale in order to assess the neurological functioning of the individual’s central nervous system (CNS)
• Electroencephalography (EEG)
• Electromyography with nerve conductivity tests
• Imaging studies that may be performed include:
  • X-ray of head and neck region
  • Computerized tomography (CT) scan of the head and neck region; CT with contrast
  • Magnetic resonance imaging (MRI) scan of the brain; MRI with contrast agents such as gadolinium
  • Cerebral angiographic studies or MR angiography: An angiogram involves injecting dye into the bloodstream, which makes the blood vessels to appear visually on X-rays. The X-ray may show a tumor in the brain or the blood vessels leading into the tumor
  • Magnetic resonance spectroscopy: This radiological technique is used to study the chemical profile of the tumor. It is often performed with and compared to corresponding MRI scan images of the affected region
• Cerebrospinal fluid analysis, where a spinal tap or lumbar puncture procedure may be performed: This diagnostic test is used to remove a sample of cerebrospinal fluid (CSF) from the spaces in and around the brain and spinal cord. The sample is removed from the lower spinal cord using a thin needle, and it is then checked for the presence of cancer cells
• Molecular studies, if necessary

Tissue biopsy: A biopsy of the affected region (brain or spinal cord) is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy sample under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. Examination of the biopsy sample under a microscope by a pathologist is considered to be gold standard in arriving at a conclusive diagnosis.

A differential diagnosis to eliminate other conditions or tumor types may be considered, before arriving at a definitive diagnosis. The radiological differential diagnosis may include:

• Ependymal cyst
• Fetal intracranial hemorrhage
• Villous hyperplasia

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Choroid Plexus Cyst?

The complications of Choroid Plexus Cyst may include the following:

• Stress and anxiety due to fear of an intracranial cystic lesion
• Hydrocephalus: When the tumor obstructs the free flow of cerebrospinal fluid in the brain, it can cause a condition known as hydrocephalus. This can result in lethargy, irritability, nausea and vomiting, loss of balance, seizures, urinary incontinence, and growth delays, among other symptoms
• Congenital lesions, those that are present at birth, may cause developmental delays in the child
• Associated with chromosomal conditions such as Edwards syndrome and Down syndrome
• Associated with higher incidence of miscarriage
• Injury to the fetus during amniocentesis to detect congenital syndrome
• Damage to the muscles, vital nerves, and blood vessels, during shunt placement
• Post-procedure infections

How is Choroid Plexus Cyst Treated?

Predominantly, Choroid Plexus Cysts are transient features that form part of fetal growth and development. It is known to typically resolve on its own during pregnancy, by or before week 32.

In case of treatment necessity, then it may involve the following:

• A careful and periodic monitoring of the pregnancy
• Placement of ventriculoperitoneal (VP) shunt: It is an invasive procedure that involves the use of a medical device called a VP shunt. The device is placed in the ventricles of the brain to treat hydrocephalus, and thus helps relieve excess CSF pressure on the brain
• Undertaking treatment for any chromosomal disorders, if present

How can Choroid Plexus Cyst be Prevented?

Currently, there are no known methods to prevent the development of Choroid Plexus Cyst.

• If there is a family history of the condition (chromosomal abnormality), then genetic counseling will help assess risks, before planning for a child
• Genetic testing of the expecting parents and prenatal diagnosis may help in understanding the risks better during pregnancy

What is the Prognosis of Choroid Plexus Cyst? (Outcome/Resolutions)

• In a vast majority of pregnancies, Choroid Plexus Cysts are known to disappear on their own, typically by the third trimester (around week 32) as the baby grows and develops within the womb
• However, the presence of a CPC in a background of variety of factors such as chromosomal abnormalities, mother’s age more than 32 years, cysts over 1 cm in size, and the presence of bilateral cysts, the cysts may continue to persist. In such cases, the prognosis depends on the size of the cyst and combination of signs and symptoms it causes
• Also, in case of any birth defects due to chromosomal abnormalities, the overall prognosis depends on several factors including the severity of the abnormality

Additional and Relevant Useful Information for Choroid Plexus Cyst:

The following article link will help you understand other cancers and benign tumors:

http://www.dovemed.com/diseases-conditions/cancer/