megalencephaly
Sign in to saveAlso known as megalencephaly, autosomal dominant
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population.
In the Vinony graph
Within Vinony's link graph, megalencephaly is referenced by 74 other articles, and connects out to magnetic resonance imaging, dominance and brain.
It is catalogued under topics including Congenital disorders of nervous system and Neurocutaneous conditions.
Its subject is documented across 7 Wikipedia language editions.
Research
1,136 papers- De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.Nature genetics · 2012
- Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021
- Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.American journal of medical genetics. Part C, Seminars in medical genetics · 2019
- From microcephaly to megalencephaly: determinants of brain size.Dialogues in clinical neuroscience · 2018
- Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology.American journal of medical genetics. Part C, Seminars in medical genetics · 2014
via PubMed
Wikidata facts
Show 2 more facts
- health specialty
- pediatrics
- exact match
- www.orpha.net/ORDO/Orphanet_2477
Sources (3)
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~12 min read
Encyclopedic overview
22 sectionsContents
- Classification
- Macrocephaly
- Hemimegalencephaly
- MCAP
- MPPH
- Presentation
- Autism
- Other associations
- Causes
- PI3K-AKT
- Pur-alpha
- Pathophysiology
- Diagnoses
- Prevention
- Treatment
- Prognosis
- Epidemiology
- History
- Research
- Other relations
- References
- External links
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Approximately 1 out of 50 children (2%) are said to have the characteristics of megalencephaly in the general population.
A mutation in the PI3K-AKT pathway is believed to be the primary cause of brain proliferation and ultimately the root cause of megalencephaly. This mutation has produced a classification of brain overdevelopment that consists of two syndromes including megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH). Megalencephaly is usually diagnosed at birth and is confirmed with an MRI.
Excerpted from Wikipedia’s “megalencephaly” article, available under the CC BY-SA 4.0 licence.