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Arachnoid cysts


Información en español Title


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Other Names:
Arachnoid cysts, intracranial; Intracranial arachnoid cysts
Categories:
Congenital and Genetic Diseases; Endocrine Diseases; Nervous System Diseases

Summary Summary


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Arachnoid cysts are sacs filled with cerebrospinal fluid (CSF) that are located between the brain or spinal cord and the arachnoid membrane, one of the three membranes that cover the brain and spinal cord. Arachnoid cysts can be primary or secondary. Primary arachnoid cysts are congenital (present at birth), resulting from abnormal development of the brain and spinal cord during early pregnancy. Secondary arachnoid cysts are less common, and result from head injuries, meningitis, tumors, or as a complication of brain surgery. Signs and symptoms depend on the location and size of the cyst and may include headache, nausea and vomiting, seizures, hearing and visual disturbances, vertigo, and difficulties with balance and walking. Although many affected individuals develop symptoms in the first year of life, some never develop symptoms. Whether and how to treat the condition depends on the location and size of the cyst. In some cases, arachnoid cysts are part of a genetic syndrome such as Chudley-McCullough syndrome, mucopolysaccharidosis, or Marfan syndrome, where there are many other associated signs and symptoms.[1][2] When treatment is recommended, it may include placing a shunt to drain the fluid; surgically removing the cyst membranes; or opening the cyst so the fluid can drain into the CSF.[3][4]
Last updated: 12/14/2017

Symptoms Symptoms


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In some cases, arachnoid cysts do not cause any symptoms.[3] The location and size of the cyst in each individual determine whether symptoms occur, as well as when they might begin. Most individuals develop symptoms before age 20, and especially during the first year of life.[3][4] 

Signs and symptoms of arachnoid cysts vary depending on where are they located around the brain, and may include:[3][4]
  • Headache
  • Nausea
  • Vomiting  
  • Seizures
  • Hearing and visual disturbances
  • Vertigo
  • Difficulties with balance and walking
Other symptoms may include:
  • Accumulation of excessive cerebrospinal fluid in the brain (hydrocephalus), resulting in increased intracranial pressure
  • Malformation of certain cranial bones, resulting in macrocephaly, which is an abnormally enlarged head (only in rare cases)
  • Neurological signs such as developmental delays, behavioral changes, inability to control voluntary movements (ataxia), difficulties with balance and walking, cognitive impairment, and weakness or paralysis on one side of the body (hemiparesis)  
Arachnoids cysts located around the spinal cord can compress the spinal cord or nerve roots and may cause symptoms such as progressive back and leg pain, and/or tingling or numbness in the legs or arms and weakness. In some cases may cause other problems such as unwanted passage of urine or stool, called urinary or fecal incontinence.[3][4][5]

If left untreated, injuries in the brain or spinal cord may occur due to a progressive expansion of the cyst(s) or bleeding into the cyst.[4]
Last updated: 4/16/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 5 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
0100702
Autosomal recessive inheritance 0000007
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ]
0000256
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Showing of 5 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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The exact underlying cause of arachnoid cysts is unknown.[3] Primary arachnoid cysts, which are congenital (present at birth), are due to developmental abnormalities of the brain and spinal cord during the early fetal period. Secondary arachnoid cysts, which occur more rarely, are associated with head injury, hemorrhage, meningitis, tumors, or a complication of brain surgery.[4][6] In some cases, arachnoid cysts are part of a genetic syndrome such as Chudley-McCullough syndrome, mucopolysaccharidosis, or Marfan syndrome, where there are many other associated signs and symptoms, related to the specific syndrome.[1][2] 
Last updated: 12/14/2017

Inheritance Inheritance


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Most diagnosed cases of arachnoid cysts are sporadic - occurring in people without a family history of arachnoid cysts.[7] However, familial cases of arachnoid cysts have been reported in the medical literature, suggesting that a genetic predisposition may play a role in some people.[3] For example, arachnoid cysts have been reported in at least three unrelated sets of siblings.[8] In familial cases, inheritance may be autosomal recessive.[7][8]

Arachnoid cysts can also occur secondary to other disorders which may be inherited such as Marfan syndrome.[3]
Last updated: 8/30/2017

Treatment Treatment


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Whether to treat all arachnoid cysts, as well as the method of treatment, has been a subject of controversy in the medical literature. The need for treatment depends mostly upon the location and size of the cyst, as well as whether symptoms are present. Some believe that treatment should be reserved for individuals with symptoms, while others believe that even asymptomatic cysts should be treated to avoid future complications.[6] In the past, doctors have placed shunts in the cyst in order to drain the fluid. However, now that specialized techniques and tools allow for minimally invasive surgery, more doctors are now opting to surgically remove the membranes of the cyst or open the cyst so its fluid can drain into the cerebrospinal fluid and be absorbed.[4]
Last updated: 12/14/2017

Prognosis Prognosis


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Even though most arachnoid cysts are congenital (present at birth), they usually do not cause any symptoms throughout an individual's life. Whether symptoms develop depends upon the size and the specific location of the cyst within the brain. Small cysts usually do not cause symptoms, and most remain constant in size. However, some do increase in size and eventually cause symptoms to appear, especially if they press against a cranial nerve, the brain, or the spinal cord.[3][4] 

If the cyst puts increased pressure on structures of the brain, neurological symptoms may develop. These symptoms can include developmental delays, behavioral changes, an inability to control voluntary movements (ataxia), difficulties with balance and walking and cognitive impairment. Weakness or paralysis on one side of the body (hemiparesis) has also been reported.[3] Symptoms often resolve or improve with treatment but if left untreated, arachnoid cysts may cause permanent severe neurological damage due to the progressive expansion of the cyst(s) or bleeding into the cyst. Arachnoid cysts may also result in a subdural hematoma, most commonly after a head trauma.[4][9] Rupture of an arachnoid cyst may occur spontaneously, but this is a very rare event.[9]
Last updated: 1/7/2016

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Arachnoid cysts. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Khan AN. Arachnoid Cyst Imaging. Medscape Reference. January 5, 2016; https://emedicine.medscape.com/article/336489-overview.
  2. Zafeiriou DI & Batzios SP. Brain and Spinal MR Imaging Findings in Mucopolysaccharidoses: A Review. American Journal of Neuroradiology. January 2013; 34(1):5-13. http://www.ajnr.org/content/34/1/5.
  3. Arachnoid Cysts. National Organization for Rare Disorders (NORD). 2015; http://rarediseases.org/rare-diseases/arachnoid-cysts/.
  4. NINDS Arachnoid Cysts Information Page. NINDS. 03/27/2020; https://www.ninds.nih.gov/Disorders/All-Disorders/Arachnoid-Cysts-Information-Page#disorders-r1.
  5. Petridis AK, Doukas A, Barth H & Mehdorn HM. Spinal cord compression caused by idiopathic intradural arachnoid cysts of the spine: review of the literature and illustrated case. European Spine Journal. 2010; 19(2):124-129. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2899629/.
  6. Khan AN, Turnbull I, Al-Okaili R, MacDonald S & Mahmood K. Arachnoid Cyst. Medscape Reference. January 5, 2016; http://emedicine.medscape.com/article/336489-overview.
  7. Arachnoid cyst. Orphanet. Arpil 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2356.
  8. Cassandra L. Kniffin. Arachnoid Cysts, Intracranial. Online Mendelian Inheritance in Man (OMIM). December, 2007; http://omim.org/entry/207790.
  9. Hong JC, Kim MS, Chang CH & Kim SH. Arachnoid cyst with spontaneous intracystic hemorrhage and chronic subdural hematoma. J Korean Neurosurg Soc. 2008; 43(1):54-56. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588155/.
  10. Chen CP, Su YN, Weng SL, Tsai FJ, Chen CY, Liu YP, Chern SR, Chen WL, Wu PC, & Wang W.. Rapid aneuploidy diagnosis of trisomy 18 by array comparative genomic hybridization using uncultured amniocytes in a pregnancy with fetal arachnoid cyst detected in late second trimester. Taiwan J Obstet Gynecol. September 2012; 51(3):481-484. http://www.ncbi.nlm.nih.gov/pubmed/23040946.
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