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Diseases

Genetic and Rare Diseases Information Center (GARD)

Porencephaly


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Overview

Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition.[1][2] There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner.[3][4] Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.[1][2]
Last updated: 3/15/2016

References

  1. NINDS Porencephaly Information Page. National Institute of Neurological Disorders and Stroke. June 2015; http://www.ninds.nih.gov/disorders/porencephaly/porencephaly.htm.
  2. Sporadic Porencephaly. NORD. 2013; http://rarediseases.org/rare-diseases/sporadic-porencephaly/.
  3. PORENCEPHALY 1. OMIM. February 2016; http://www.omim.org/entry/175780?search=porencephaly&highlight=porencephaly.
  4. PORENCEPHALY 2. OMIM. February 2012; http://www.omim.org/entry/614483?search=porencephaly&highlight=porencephaly.
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Basic Information

In Depth Information

  • 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. 
    Porencephaly 1
    Porencephaly 2
  • 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 Porencephaly. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.