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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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

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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

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

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

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Refractory epilepsy and encephalocele: lesionectomy or tailored surgery?
 

Author(s): Sara Gasparini, Edoardo Ferlazzo, Flavio Villani, Giuseppe Didato, Francesco Deleo, Marina Angela Bellavia, Vittoria Cianci, Maria Adele Latella, Mauro Campello, Felice Giangaspero, Umberto Aguglia

Journal: Seizure. 2014 Aug;23(7):583-4.

 

Last Updated: 8 Jul 2014

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Coexistence of giant cell fibroblastoma and encephalocele.
 

Author(s): Nishat Afroz, Nida Shamim, Anshu Jain, Mayank Soni

Journal:

 

Giant cell fibroblastoma (GCF) is a rare soft tissue tumour that occurs almost exclusively in children younger than 10 years of age and is mostly located in the superficial soft tissues of the back and thighs. We present a rare case of GCF with encephalocele in a 1.5-year-old boy ...

Last Updated: 14 Apr 2014

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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 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

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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

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.