Rare Pediatrics News

Disease Profile

Cauda equina syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

Cauda equina syndrome (CES) refers to a group of symptoms that occur when nerves in the cauda equina (a collection of nerve roots that spread out from the bottom of the spinal cord) become compressed or damaged. These nerves roots connect the central nervous system and peripheral nervous system. CES can lead to pain, numbness, and weakness in the lower back, pelvic area and legs; "foot drop"; problems with bowel or bladder control; sexual dysfunction; and even paralysis. CES is considered a medical emergency and requires hospitalization.[1][2][3][4] Therefore, people with unexplained onset of symptoms should seek medical attention as soon as possible and consult with a neurologist or neurosurgeon.[1][2][4] 

CES is most commonly caused by a herniated disk in the lumbar spine. Other causes of CES may include a birth abnormality (such as spina bifida), a spinal infection or tumor, trauma or injury to the lower back, spinal stenosis, a spinal arteriovenous malformation, and complications after spinal surgery.[1][2][3][4]

CES can be difficult to diagnose since symptoms vary and they may mimic other conditions. Tests that may be used to diagnose CES include MRI, CT scan, and myelogram (a special type of X-ray of the spinal canal).[1][2][4]

Treatment usually targets the underlying cause of CES (removing the cause of nerve pressure) and most often involves urgent surgery to prevent permanent neurologic impairment.[4] How well a person recovers from CES often depends on the underlying cause and how promptly they are treated. Symptoms are more likely to improve or go away if the cause is identified quickly and treatment begins right away.[1] Some people have significant improvement of symptoms and quality of life after treatment. However, others may have permanent neurologic impairment, chronic pain, and/or mental health problems due to the impact of symptoms on social life and relationships.[4]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

      Learn more

      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

        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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Cauda equina syndrome. Click on the link to view a sample search on this topic.

          References

          1. Dawodu ST. Cauda Equina and Conus Medullaris Syndromes. Medscape Reference. May 30, 2017; https://emedicine.medscape.com/article/1148690-overview.
          2. Cauda Equina Syndrome. American Academy of Orthopaedic Surgeons. March 2014; https://orthoinfo.aaos.org/topic.cfm?topic=a00362.
          3. Patient education: Cauda equina syndrome (The Basics). UpToDate. Waltham, MA: UpToDate; https://www.uptodate.com/contents/cauda-equina-syndrome-the-basics. Accessed 3/6/2018.
          4. Cauda Equina Syndrome. American Association of Neurological Surgeons. https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Cauda-Equina-Syndrome. Accessed 3/6/2018.