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Diseases

Genetic and Rare Diseases Information Center (GARD)

Other Names for this Disease
  • Broad gyri of cerebrum
  • Large gyri of cerebrum
  • Macrogyria
More Names
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Overview


Pachygyria is a rare developmental disorder which results from abnormal migration of neurons in the developing brain and nervous system.[1]  In pachygyria, the gyri are relatively few and are unusually broad and flat. The condition does not affect the entire brain, and is also known as ‘incomplete lissencephaly.’[2] Symptoms are variable, but may include seizures, developmental delay, growth failure, small head size, feeding issues and poor muscle control.[1] Most cases are isolated, although autosomal dominant and recessive forms have been described.[1][3] Treatment is symptomatic and supportive.[1][2]

References

  1. NINDS Neuronal Migration Disorders Information Page. National Institute of Neurological Disorders and Stroke (NINDS) Web site. http://www.ninds.nih.gov/health_and_medical/disorders/neuronal_migration.htm. Accessed August 18, 2009.
  2. Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging, 4th ed.. 2001.
  3. Straussberg R, Gross S, Amir J, Gadoth N. Clin Genet. 1996. http://www.ncbi.nlm.nih.gov/pubmed/9147882. Accessed August 18, 2009.
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General Information

  • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pachygyria. Click on the link to view a sample search on this topic.
  • The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Pachygyria. Click on the link to go to OMIM and review these resources.