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.
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
~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.