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

Utility of diffusion tensor imaging parameters for diagnosis of hemimegalencephaly.
 

Author(s): Tomomi Oikawa, Yasuko Tatewaki, Takaki Murata, Yumiko Kato, Shunji Mugikura, Kei Takase, Shoki Takahashi

Journal: Neuroradiol J. 2015 Dec;28(6):628-33.

 

Hemimegalencephaly is a rare hamartomatous entity characterised by enlargement of all or part of the cerebral hemisphere ipsilaterally with cortical dysgenesis, large lateral ventricle and white matter hypertrophy with or without advanced myelination. Although conventional magnetic ...

Last Updated: 20 Nov 2015

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Magnetic Resonance Fiber Tracking in a Neonate with Hemimegalencephaly.
 

Author(s): Thomas J Re, Laura Scarciolla, Emi Takahashi, Nicola Specchio, Bruno Bernardi, Daniela Longo

Journal: J Neuroimaging. ;25(5):844-7.

 

A magnetic resonance diffusion fiber tracking study in neonate diagnosed with left hemisphere hemimegalencephaly is presented. Despite diffuse morphologic deformities identified in conventional imaging, all major pathways were identifiable bilaterally with minor aberrations in vicinity ...

Last Updated: 14 Aug 2015

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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
 

Author(s): Alissa M D'Gama, Ying Geng, Javier A Couto, Beth Martin, Evan A Boyle, Christopher M LaCoursiere, Amer Hossain, Nicole E Hatem, Brenda J Barry, David J Kwiatkowski, Harry V Vinters, A James Barkovich, Jay Shendure, Gary W Mathern, Christopher A Walsh, Annapurna Poduri

Journal: Ann. Neurol.. 2015 Apr;77(4):720-5.

 

Focal malformations of cortical development, including focal cortical dysplasia (FCD) and hemimegalencephaly (HME), are important causes of intractable childhood epilepsy. Using targeted and exome sequencing on DNA from resected brain samples and nonbrain samples from 53 patients ...

Last Updated: 26 Mar 2015

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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 Genetics Home Reference.

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.