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.

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 51 free, full-text research articles on human participants. First 3 results:

A Rare Triad of Giant Occipital Encephalocele with Lipomyelomeningocele, Tetralogy of Fallot, and Situs Inversus.
 

Author(s): Arie Franco, Stephanie Y Jo, Amar S Mehta, Dave J Pandya, Carina W Yang

Journal:

 

Giant encephalocele is an uncommon congenital anomaly with very few published reports available in the English literature. Tetralogy of Fallot associated with situs inversus is also infrequently reported. To our knowledge there are no published reports of an association between giant ...

Last Updated: 20 May 2016

Go To URL
Epilepsy with temporal encephalocele: Characteristics of electrocorticography and surgical outcome.
 

Author(s): Fedor Panov, Yi Li, Edward F Chang, Robert Knowlton, Susannah B Cornes

Journal: Epilepsia. 2016 Feb;57(2):e33-8.

 

Temporal lobe encephaloceles (TEs) are increasingly identified in patients with epilepsy due to advances in neuroimaging. Select patients become seizure-free with lesionectomy. In practice, however, many of these patients will undergo standard anterior temporal lobectomy. Herein we ...

Last Updated: 6 Feb 2016

Go To URL
Incidental intrasphenoidal encephalocele(ise).
 

Author(s): S Stefanelli, I Barnaure, S Momjian, M Seeck, I Constantinescu, K O Lovblad, M I Vargas

Journal: J Neuroradiol. 2014 Dec;41(5):358-60.

 

Last Updated: 3 Dec 2014

Go To URL

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 4 free, full-text review articles on human participants. First 3 results:

Parietal intradiploic encephalocele: Report of a case and review of the literature.
 

Author(s): Julio Arevalo-Perez, José M Millán-Juncos

Journal: Neuroradiol J. 2015 Jun;28(3):264-7.

 

Encephaloceles consist of brain tissue and meninges that has herniated through a skull defect, usually located in the midline. They are seen more commonly in children and very rarely in adults. We present a case of an 84-year-old patient who was incidentally diagnosed with a lytic ...

Last Updated: 6 Aug 2015

Go To URL
Epilepsy surgery for refractory epilepsy due to encephalocele: a case report and review of the literature.
 

Author(s): Howard J Faulkner, David R Sandeman, Seth Love, Marcus J Likeman, Desnomd A Nunez, Samden D Lhatoo

Journal: Epileptic Disord. 2010 Jun;12(2):160-6.

 

The management of medically intractable epilepsy is frequently assisted by the identification of structural abnormalities made possible by modern imaging techniques. The association between meningoencephaloceles and epileptic seizures is well reported in the literature. We report ...

Last Updated: 21 Jun 2010

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.