Encephalocele

Common Name(s)

Encephalocele

Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull. When located in the back of the skull, encephaloceles are often associated with neurological problems. Encephaloceles are usually dramatic deformities diagnosed immediately after birth; but occasionally a small encephalocele in the nasal and forehead region can go undetected. There is a genetic component to the condition; it often occurs in families with a history of spina bifida and anencephaly in other family members.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Encephalocele" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Encephalocele" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Encephalocele" returned 47 free, full-text research articles on human participants. First 3 results:

Transethmoidal encephalocele after reduction of high intracranial pressure in aqueductal stenosis.
 

Author(s): Guive Sharifi, Ehsan Alavi, Maryam Jalessi, Karim Haddadian, Faezeh Faramarzi

Journal: Turk Neurosurg. 2014 ;24(1):75-7.

 

Acquired non-traumatic transethmoidal encephaloceles are very infrequent lesions that are generally caused by a tumor or hydrocephalus. As far as we know, there is no reported case of encephalocele after CSF diversion in the literature. We present a 25-year-old woman with hydrocephalus ...

Last Updated: 18 Feb 2014

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Last Updated: 22 Nov 2013

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[Pneumo-encephalocele].
 

Author(s): Mónica Caldeira, Filipe Perneta, Luís Freitas

Journal: Acta Med Port. ;26(2):181.

 

Last Updated: 1 Jul 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Encephalocele" returned 2 free, full-text review articles on human participants. First 3 results:

The results of early physiotherapy on a child with incontinentia pigmenti with encephalocele.
 

Author(s): Ozgun Kaya Kara, Akmer Mutlu, Mintaze Kerem Gunel

Journal:

 

This study aimed to exhibit the effects of early physiotherapy and discusses post-treatment results on a patient with incontinentia pigmenti (IP) with encephalocele. Physiotherapy evaluations of the child included cognitive, fine and gross motor development assessed with the Bayley ...

Last Updated: 6 Jul 2012

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Prenatal diagnosis of Joubert syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound.
 

Author(s): P Wang, F M Chang, C H Chang, C H Yu, Y C Jung, C C Huang

Journal: Ultrasound Obstet Gynecol. 1999 Nov;14(5):360-2.

 

Last Updated: 19 Jan 2000

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
 

Status: Recruiting

Condition Summary: Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

 

Last Updated: 12 Jan 2014

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