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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Colpocephaly


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Overview



What is colpocephaly?

What causes colpocephaly?

How might colpocephaly be treated?


What is colpocephaly?

Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain - are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken.[1]  
Last updated: 11/12/2012

What causes colpocephaly?

Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy.[1] The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.[2]
Last updated: 7/8/2013

How might colpocephaly be treated?

There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles.[1]
Last updated: 7/8/2013

References
  1. . NINDS Colpocephaly Information Page. National Institute of Neurological Disorders and Stroke . http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm. Accessed 2/1/2008.
  2. Puvabanditsin S, Garrow E, Ostrerov Y, Trucanu D, Ilic M, Cholenkeril JV. Colpocephaly: A Case Report. Am J Perinatol. 2006; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=16799912%5Buid%5D&WebEnv=0HzSMNKOfhWzqyHUjE16qPmpWfTa2A3iwzaS-l6C7Uw3ElobJnL2wduDmXhsLvcWErSldRWg3E8oxBv%403F70508D79A1C8D0_0063SID&WebEnvRq=1. Accessed 2/1/2008.