Rare Immunology News

Disease Profile

Superficial siderosis of the central nervous system

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

Superficial siderosis of the central nervous system is a rare condition that primarily affects the brain. Signs and symptoms generally develop in adulthood and may include hearing loss and cerebellar ataxia. Some affected people may also experience seizures, memory impairment, bladder disturbance, headaches, back pain, and/or dysarthria. Superficial siderosis of the central nervous system is thought to be caused by bleeding into a portion of the brain called the subarachnoid space (the area between the brain and the thin tissues that cover the brain). This bleeding can have a variety of causes, such as trauma, a tumor of the central nervous system, arteriovenous malformations, or an unknown cause. Not all people who experience bleeding into the subarachnoid space go on to develop superficial siderosis of the central nervous system. Treatment varies based on the underlying cause and severity of the condition and may include surgery and/or medications.[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

  • 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 Superficial siderosis of the central nervous system. Click on the link to view a sample search on this topic.

References

  1. Posti JP, Juvela S, Parkkola R, Roine S. Three cases of superficial siderosis of the central nervous system and review of the literature. Acta Neurochir. October 2011; 153(10):2067-2073.
  2. Chen CY, Xiao F, Liu JL. Superficial siderosis of the central nervous system with seizures onset. Singapore Med J. October 2015; 56(10):590-591.