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Choroid plexus cysts (CPCs) are cysts that occur within choroid plexus of the brain. The brain contains pockets or spaces called ventricles with a spongy layer of cells and blood vessels called the choroid plexus. This is in the middle of the fetal brain. The choroid plexus has the important function of producing cerebrospinal fluid. The fluid produced by the cells of the choroid plexus fills the ventricles and then flows around the brain and the spinal cord to provide a cushion of fluid around these structures.
CPCs can form within this structure and come from fluid trapped within this spongy layer of cells, much like a soap bubble or a blister. CPCs are often called "soft signs" or fetal ultrasound "markers" because some studies have found a weak association between CPCs and fetal chromosome abnormalities.
It is believed that many adults have one or more tiny CPCs. The fetal brain may create these cysts as a normal part of development. They are temporary and usually are gone by the 32nd week of pregnancy.
CPCs are a rare cause of intermittent hydrocephalus. This is caused by a blockage of foramina within the ventricular drainage system of the central nervous system (CNS), which can lead to expansion of the ventricles, compressing the brain (the cranial cavity cannot expand to accommodate the increase in fluid volume) and possibly causing damage.
Symptoms are assessed on a case by case basis. Some cysts in the CNS can be asymptomatic (producing or showing no symptoms), depending on their location in the brain or spinal cord. If the cysts develop in critical areas of the central nervous system, they can present one or more of the following symptoms:
- Pressure in the spinal cord or brain
- Rupture of nerves around the cyst
- Weakness in specific parts of the body controlled by the cyst-infected brain region
- Inflammation
- Hydrocephalus
- Brainstem hemorrhage
- Seizures
- Visual disturbances and hearing Loss
- Headache
- Difficulty with balance or walking
In general, symptoms vary depending on the type of cyst and its location within the CNS.
This category of cysts takes over areas of necrotic tissue in the brain from injuries, diseases, or abnormalities, which occur due to the central nervous system's nonregenerative nature. These cysts can affect all germ layers of the CNS, but are most common in the arachnoid mater, and the ventricular space, which may block CSF pathways. These cysts can be static (stationary) or progressive. Some examples of cysts originating from the CNS tissue include:
- Arachnoid cysts (Leptomeningeal cysts)
- Ependymal cysts
- Cystic cerebellar astrocytomas
- Colloid cysts
A colloid cyst is a tumor containing gelatinous material in the brain. It is almost always found just posterior to the foramen of Monro in the anterior aspect of the third ventricle, originating from the roof of the ventricle. Because of its location, it can cause obstructive hydrocephalus and increased intracranial pressure. Colloid cysts represent 0.5–1% of intracranial tumors.
Symptoms can include headache, vertigo, memory deficits, diplopia, behavioral disturbances and in extreme cases, sudden death. Intermittency of symptoms is characteristic of this lesion. Untreated pressure caused by these cysts can result in brain herniation. Colloid cyst symptoms have been associated with 4 variables: cyst size, cyst imaging characteristics, ventricular size, and patient age. The developmental origin is unclear, though they may be of endodermal origin, which would explain the mucin-producing, ciliated cell type. These cysts can be surgically resected, and opinion is divided about the advisability of this.
Patients with third ventricular colloid cysts become symptomatic when the tumor enlarges rapidly, causing CSF obstruction, ventriculomegaly, and increased intracranial pressure. Some cysts enlarge more gradually, however, allowing the patient to accommodate the enlarging mass without disruption of CSF flow, and the patient remains asymptomatic. In these cases, if the cyst stops growing, the patient can maintain a steady state between CSF production and absorption and may not require neurosurgical intervention.
Genetic counseling is often recommended to provide more information about fetal CPCs, to answer questions and concerns, and to outline available options such as amniocentesis or a blood test from the mother. There is a possible association between ultrasound-detected fetal CPCs and Trisomy 18. It is not correlated to the presence of Trisomy 21 (Down syndrome).
Generally the risks are very low if there are no other risk factors. If no additional abnormalities are detected by a thorough "level II" ultrasound, the likelihood the fetus has trisomy 18 is very low.
A meta-analysis of 8 studies between 1990 and 2000 with choroid plexus cysts that were identified in second-trimester (an incidence of 1.2%). The incidence of the cysts in women younger than 35 was 1% (n=1017). The study found no cases of trisomy 18 in fetuses with cysts whose mother was younger than 35. The study concluded that "there is no evidence that detection of isolated choroid plexus cyst in women who are <35 years of age increases the risk of trisomy 18".
Other factors which may have a bearing on the baby's chances of developing chromosome problems include:
- mother's age at the expected date of delivery
- the results of serum screening; XAFP triple testing or quad screening
- evidence of other "fetal findings" seen at the time of the ultrasound that may suggest a chromosome problem
Thyroglossal duct cysts most often present with a palpable asymptomatic midline neck mass above the level of the hyoid bone. The mass on the neck moves during swallowing or on protrusion of the tongue because of its attachment to the tongue via the tract of thyroid descent. Some patients will have neck or throat pain, or dysphagia.
The persistent duct or sinus can promote oral secretions, which may cause cysts to become infected. Up to half of thyroglossal cysts are not diagnosed until adult life. The tract can lie dormant for years or even decades, until some kind of stimulus leads to cystic dilation. Infection can sometimes cause the transient appearance of a mass or enlargement of the cyst, at times with periodic recurrences. Spontaneous drainage may also occur. Differential diagnosis are ectopic thyroid, enlarged lymph nodes, dermoid cysts and goiter.
Thyroglossal cyst usually presents as a midline neck lump (in the region of the hyoid bone) that is usually painless, smooth and cystic, though if infected, pain can occur. There may be difficulty breathing, dysphagia (difficulty swallowing), or dyspepsia (discomfort in the upper abdomen), especially if the cyst becomes large.
The most common location for a thyroglossal cyst is midline or slightly off midline, between the isthmus of the thyroid and the hyoid bone or just above the hyoid bone. A thyroglossal cyst can develop anywhere along a thyroglossal duct, though cysts within the tongue or in the floor of the mouth are rare.A thyroglossal cyst will move upwards with protrusion of the tongue.Thyroglossal cysts are associated with an increased incidence of ectopic thyroid tissue. Occasionally, a lingual thyroid can be seen as a flattened strawberry-like lump at the base of the tongue.
Signs of the tumor resulting from increased intracranial pressure are present in 91% of patients, with vomiting, homonymous visual field defects and headache being the most common symptoms.
Other symptoms are ear ringing and dizziness.
A small cyst that requires magnification to be seen, may be called a microcyst. Similarly, a cyst that is larger than usual or compared to others, may be called a macrocyst.
An infected thyroglossal duct cyst can occur when it is left untreated for a certain amount of time or simply when a thyroglossal duct cyst hasn't been suspected. The degree of infection can be examined as major rim enhancement has occurred, located inferior to the hyoid bone. Soft tissue swelling occurs, along with airway obstruction and trouble swallowing, due to the rapid enlargement of the cyst.
With infections, there can be rare cases where an expression of fluid is projected into the pharynx causing other problems within the neck.
The aneurysmal bone cyst is a neoplastic cyst, more specifically, an aggressive lesion with radiographic cystic appearance.
Due to its classification, a dermoid cyst can occur wherever a teratoma can occur.
An ependymal tumor is a type of brain tumor that begins in cells lining the spinal cord central canal (fluid-filled space down the center) or the ventricles (fluid-filled spaces of the brain). Ependymal tumors may also form in the choroid plexus (tissue in the ventricles that makes cerebrospinal fluid). Also called ependymoma.
Dermoid cysts can appear in young children, often near the lateral aspect of the eyebrow (right part of the right eyebrow or left part of the left eyebrow). Depending on the perceived amount of risk, these are sometimes excised or simply kept under observation.
An inflammatory reaction can occur if a dermoid cyst is disrupted, and the cyst can recur if it is not completely excised. Sometimes complete excision is not practical if the cyst is in a dumbbell configuration, whereby it extends through a suture line in the skull.
If dermoid cysts appear on the medial aspect, the possibility of an encephalocele becomes greater and should be considered among the differential diagnoses.
Dermoid cysts develop during pregnancy. They occur when skin cells and things like hair, sweat glands, oil glands or fatty tissue get trapped in the skin as a baby grows in the womb.Dermoid cysts are present at birth (congenital) and are common. It can be months or years before a dermoid cyst is noticed on a child because the cysts grow slowly.
Dermoid cyst symptoms are minor and the cysts are usually painless. They are not harmful to a child’s health. If they become infected, the infection must be treated and the cyst should be removed. It is easier to remove cysts and prevent scars if the cyst is removed before it gets infected.
The scalp, ears, back, face, and upper arm, are common sites of sebaceous cysts, though they may occur anywhere on the body except the palms of the hands and soles of the feet. In males a common place for them to develop is the scrotum and chest. They are more common in hairier areas, where in cases of long duration they could result in hair loss on the skin surface immediately above the cyst. They are smooth to the touch, vary in size, and are generally round in shape.
They are generally mobile masses that can consist of:
- Fibrous tissues and fluids,
- A fatty (keratinous) substance that resembles cottage cheese, in which case the cyst may be called "keratin cyst". This material has a characteristic "cheesy" or foot odor smell,
- A somewhat viscous, serosanguineous fluid (containing purulent and bloody material).
The nature of the contents of a sebaceous cyst, and of its surrounding capsule, differs depending on whether the cyst has ever been infected.
With surgery, a cyst can usually be excised in its entirety. Poor surgical technique, or previous infection leading to scarring and tethering of the cyst to the surrounding tissue, may lead to rupture during excision and removal. A completely removed cyst will not recur, though if the patient has a predisposition to cyst formation, further cysts may develop in the same general area.
The epidermoid cyst may have no symptoms, or it may hurt when touched. It can release pus. It is very common for women on the major or minor labia. In contrast to pilar cysts, epidermoid cysts are usually present on parts of the body with relatively little hair.
Occasionally, an epidermoid cyst will present with Trigeminal neuralgia.
Although they are not malignant, there are rare cases of malignant tumors arising from an epidermoid cyst.
Choroid plexus papillomas are benign tumors that are usually cured by surgery; malignant progression has been rarely reported.
A cyst of Montgomery is a benign breast mass, usually found in adolescent girls. Typically, it resolves spontaneously by itself.
A cyst of Montgomery may be asymptomatic. Yet, a cyst of Montgomery usually is diagnosed when a female patient, 10–20 years of age, complains to a healthcare professional of breast pain (mastalgia), inflammation or a palpable nodule in the breast. The diagnosis is made clinically, when a palpable nodule is felt in the retroareolar area.
The diagnosis can be confirmed with ultrasonography, frequently showing a simple cyst in the retroareolar area. In some patients, multiple cysts or bilateral cysts may exist. Cysts of Montgomery may have liquid content with an echogenic or calcific sediment.
About 90% of pilar cysts occur on the scalp, with the remaining sometimes occurring on the face, trunk and extremities. Pilar cysts are significantly more common in females, and a tendency to develop these cysts is often inherited in an autosomal dominant pattern. In most cases, multiple pilar cysts appear at once.
The nasopalatine cyst is the most common non-odontogenic cyst of the oral cavity, at an estimated occurrence rate of 73%.
Most patients present clinically with progressive, one sided hearing loss, much more often of the sensorineural rather than conductive type. Patients may also experience tinnitus, vertigo, and loss of vestibular function (ataxia). Symptoms are usually present for a long time, which supports the slow growth of these tumors. Patients may also present with other symptoms related to von Hippel-Lindau syndrome in other anatomic sites, which will result in imaging evaluation of the head.
Cysts rarely cause any symptoms, unless they become secondarily infected. The signs depend mostly upon the size and location of the cyst. If the cyst has not expanded beyond the normal anatomical boundaries of the bone, then there will be no palpable lump outside or inside the mouth. The vast majority of cysts expand slowly, and the surrounding bone has time to increase its density around the lesion, which is the body's attempt to isolate the lesion. Cysts that have expanded beyond the normal anatomic boundaries of a bone are still often covered with a thin layer of new bone. At this stage, there may be a sign termed "eggshell cracking", where the thinned cortical plate cracks when pressure is applied. A lump may be felt, which may feel hard if there is still bone covering the cyst, or fluctuant if the cyst has eroded through the bone surrounding it. A cyst may become acutely infected, and discharge into the oral cavity via a sinus. Adjacent teeth may be loosened, tilted or even moved bodily. Rarely, roots of teeth are resorbed, depending upon the type of cyst. The inferior alveolar nerve runs through the mandible and supplies sensation to the lower lip and chin. As most cysts expand slowly, there will be no altered sensation (anesthesia or paraesthesia), since the inferior alveolar canal is harmlessly enveloped or displaced over time. More aggressive cysts, or acute infection of any cyst may cause altered sensation.
The symptoms of choroid plexus carcinoma are similar to those of other brain tumors. They include:
- Persistent or new onset headaches
- Macrocephaly or bulging fontanels in infants.
- Loss of appetite (refusal to take food in infants)
- Papilledema
- Nausea and emesis
- Ataxia
- Strabismus
- Developmental delays
- Altered mental status
Nasopalatine duct cysts usually present as asymptomatic palatal swellings, but they may rarely be accompanied by pain and/or purulent discharge. The cysts are generally treated by .