Rare Rheumatology News

Disease Profile

Cerebrospinal fluid leak

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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Other names (AKA)

CSF leak; CSF rhinorrhea; CSF otorrhea;

Categories

Nervous System Diseases

Summary

Cerebrospinal fluid (CSF) otorrhea is the leakage of cerebrospinal fluid (CSF) though the ear. It is a rare but very serious condition that requires rapid intervention. Symptoms include leak of clear fluid through the ear, inflammation of the membranes that cover the brain (meningitis), hearing loss, and seizures. The cause of a spinal fluid leak through the ear is a defect of the bone and meningeal layers covering the brain that separate the subarachnoid space of the brain from the middle ear and mastoid bone (located just behind the ear). The leaks occur after a surgery in the base of the skull, temporal bone fractures, congenital defects of the inner ear, trauma, or they may be spontaneous. Treatment depends on the cause and may include antibiotics, compression dressing and surgery.[1][2]

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.

In-Depth Information

  • 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 Cerebrospinal fluid leak. Click on the link to view a sample search on this topic.

References

  1. Hanson MB. CSF Otorrhea.. Medscape Reference. October 3, 2014; https://emedicine.medscape.com/article/883160-overview. Accessed 12/30/2015.
  2. Kou YF, Zhu VF, Kutz JW Jr, Mitchell RB & Isaacson B. Transcanal Endoscopic Management of Cerebrospinal Fluid Otorrhea Secondary to Congenital Inner Ear Malformations. Otol Neurotol. January, 2016.; 37(1):62-65. https://www.ncbi.nlm.nih.gov/pubmed/26571412. Accessed 12/30/2015.