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Other Names for this Disease
- Broad gyri of cerebrum
- Large gyri of cerebrum
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Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat. The condition is also known as "incomplete lissencephaly." Pachygyria may occur alone (isolated) or as part of various underlying syndromes. Symptoms vary among affected people and may include moderate to severe developmental delay, seizures, poor muscle tone and control, feeding or swallowing difficulties, and small head size (microcephaly). In most cases it is not inherited, but various inheritance patterns have been reported. Treatment is symptomatic and supportive.
Last updated: 2/20/2014
- NINDS Neuronal Migration Disorders Information Page. National Institute of Neurological Disorders and Stroke (NINDS) Web site. 2007; http://www.ninds.nih.gov/health_and_medical/disorders/neuronal_migration.htm. Accessed 8/18/2009.
- Grainger & Allison's Diagnostic Radiology: A Textbook of Medical Imaging, 4th ed.. 2001;
- Pachygyria. The Cortical Foundation. 2012; http://cortfoundation.org/cms/pachygyria/. Accessed 2/20/2014.
- Straussberg R, Gross S, Amir J, Gadoth N. A new autosomal recessive syndrome of pachygyria. Clin Genet. 1996; http://www.ncbi.nlm.nih.gov/pubmed/9147882. Accessed 8/18/2009.
- 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.
In Depth Information
- 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.
- 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.