Hemimegalencephaly

Common Name(s)

Hemimegalencephaly

Hemimegalencephaly is a rare malformation involving one side of the brain. It may occur alone or in association with epidermal nevus syndrome, Proteus syndrome, or Klippel-Trenaunay syndrome. It usually causes partial epilepsy, which may be treated with hemispherectomy. Hemimegalencephaly can also cause intellectual disability and impair normal movement on the side of the body opposite of the malformation. Symptoms range from mild to severe. The cause of this condition is not fully understood, but involves a disturbance of cells early in development and likely involves genes involved in patterning and symmetry.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Hemispherectomy Foundation

To Encourage and Support impacted families by connecting them with other families who have had a hemispherectomy or similar surgery To Work together with medical professionals to fund research into the cause of the diseases that lead to intractable epilepsy, hemispherectomy, and the surgery itself To Raise Money for camp fees, scholarships for trade schools and higher education as well as provide financial relief for struggling families

Last Updated: 19 Feb 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Hemispherectomy Foundation

To Encourage and Support impacted families by connecting them with other families who have had a hemispherectomy or similar surgery To Work together with medical professionals to fund research into the cause of the diseases that lead to intractable epilepsy, hemispherectomy, and the surgery itself To Raise Money for camp fees, scholarships for trade schools and higher education as well as provide financial relief for struggling families

http://hemifoundation.intuitwebsites.com/welcome.html

Last Updated: 19 Feb 2013

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General Support Organizations

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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 "Hemimegalencephaly" returned 17 free, full-text research articles on human participants. First 3 results:

Happle-Tinschert syndrome: report of a case with hemimegalencephaly.
 

Author(s): Anıl Özgur, Gonca Çabuk, Rabia Arpacı, Kıymet Baz, Demet Katar

Journal: Korean J Radiol. ;15(4):534-7.

 

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this ...

Last Updated: 23 Jul 2014

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
 

Author(s): Jeong Ho Lee, My Huynh, Jennifer L Silhavy, Sangwoo Kim, Tracy Dixon-Salazar, Andrew Heiberg, Eric Scott, Vineet Bafna, Kiley J Hill, Adrienne Collazo, Vincent Funari, Carsten Russ, Stacey B Gabriel, Gary W Mathern, Joseph G Gleeson

Journal:

 

De novo somatic mutations in focal areas are well documented in diseases such as neoplasia but are rarely reported in malformation of the developing brain. Hemimegalencephaly (HME) is characterized by overgrowth of either one of the two cerebral hemispheres. The molecular etiology ...

Last Updated: 30 Jul 2012

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Hemimegalencephaly presenting as microcephaly.
 

Author(s): Vivek Kumar

Journal: Indian Pediatr. 2010 Sep;47(9):811.

 

Last Updated: 4 Nov 2010

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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 "Hemimegalencephaly" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.