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Schizencephaly


Other Names for this Disease

  • Familial schizencephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is schizencephaly?

What are the signs and symptoms of schizencephaly?

What causes schizencephaly?

Is schizencephaly inherited?

Is genetic testing available for schizencephaly?

How is schizencephaly diagnosed?

How might schizencephaly be treated?

What is the long-term outlook for people with schizencephaly?

What is schizencephaly?

Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia).[1] Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present.[2] Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors.[2][3] Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.[1]
Last updated: 11/17/2014

What are the signs and symptoms of schizencephaly?

Signs and symptoms of schizencephaly may include:[1][2]
Severity of symptoms depends on many factors, including the extent of the clefting and whether or not other brain abnormalities are present. For example, people with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability.[2]
Last updated: 11/18/2014

What causes schizencephaly?

The exact cause of schizencephaly is unknown.[4] A small number of people with schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1.[5][3][6] Rarely, schizencephaly can affect more than one family member.[4][7][8][9] This supports a genetic cause in some cases.[4]

Schizencephaly has also been linked to a variety of non-genetic factors, including young maternal age and certain medications and infections that can cause vascular disruptions (disruption of blood flow or blood supply) in a developing baby.[2]
Last updated: 11/18/2014

Is schizencephaly inherited?

Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family.[4][7][8] A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene.[10]

Last updated: 11/22/2014

Is genetic testing available for schizencephaly?

In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1.[3] Genetic testing is available for these families.[11]
Last updated: 11/18/2014

How is schizencephaly diagnosed?

Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI).[2] A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly.

In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.[2][12]
Last updated: 11/18/2014

How might schizencephaly be treated?

The best treatment options for people with schizencephaly depend on many factors, including the severity of the condition and the signs and symptoms present. For example, people with developmental delay (i.e. delayed motor milestones) or partial paralysis may be referred for physical therapy and/or occupational therapy. Medications are often prescribed to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.[1][2]
Last updated: 11/18/2014

What is the long-term outlook for people with schizencephaly?

The long-term outlook for people with schizencephaly varies depending on the size and location of the clefts and the extent of intellectual disabilities.[1][2] For example, children with a small cleft in one hemisphere may have paralysis on one side of the body and little to no intellectual disability, while clefts in both hemispheres can lead to quadriplegia (paralysis of both arms and legs) and severe intellectual disability.[2]
Last updated: 11/18/2014

References
  1. NINDS Schizencephaly Information Page. National Institute of Neurological Disorders and Stroke. April 16, 2014; http://www.ninds.nih.gov/disorders/schizencephaly/schizencephaly.htm. Accessed 11/17/2014.
  2. Schizencephaly. Orphanet. May 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=799. Accessed 11/17/2014.
  3. Schizencephaly. OMIM. May 2014; http://omim.org/entry/269160. Accessed 11/17/2014.
  4. Hilburger AC, Willis JK, Bouldin E, Henderson-Tilton A. Familial schizencephaly. Brain & Development. May-June 1993; 15(3):234-236. http://www.ncbi.nlm.nih.gov/pubmed/8214352. Accessed 4/28/2011.
  5. Yoneda et al. Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly. Ann. Neurol. 2013; 73:48-57. Accessed 11/18/2014.
  6. Hehr U et al. Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly. Human Genetics. March 2010; 127(5):555-561. http://www.ncbi.nlm.nih.gov/pubmed/20157829. Accessed 4/28/2011.
  7. Hosley, M. A., Abroms, I. F., Ragland, R. L. Schizencephaly: case report of familial incidence. Pediat. Neurol. 1992; 8:148-150. Accessed 11/18/2014.
  8. Robinson, R. O. Familial schizencephaly. Dev. Med. Child Neurol. 1991; 33:1010-1014. Accessed 11/18/2014.
  9. Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA. EMX2-independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A. June 2005; 135(2):166-170. Accessed 11/18/2014.
  10. Faiella, A., Brunelli, S., Granata, T., D'Incerti, L., Cardini, R., Lenti, C., Battaglia, G., Boncinelli, E. A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2. Europ. J. Hum. Genet. 1997; 5:186-190.
  11. Schizencephaly. Genetic Testing Registry. http://www.ncbi.nlm.nih.gov/gtr/conditions/C0266484/. Accessed 11/18/2014.
  12. Ken R Close, MD. Schizencephaly Imaging. Medscape. November 2013; http://emedicine.medscape.com/article/413051-overview. Accessed 11/18/2014.


Other Names for this Disease
  • Familial schizencephaly
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.