However, there is no definitive evidence that autism is the primary cause/result of megalencephaly.Since most children with megalencephaly also have autism, the goal of treatment for MEG is focused on managing the signs and symptoms associated with autism. Other associations
Achondroplasia
Beckwith–Wiedemann syndrome
Neurofibromatosis type I (NF1)
Tuberous sclerosis (TS)
Klippel–Trénaunay syndrome
Epidermal nevus syndrome

Causes
Although very little is still known as to the direct cause of megalencephaly, recent studies have begun to provide early indications of possible sources for its formation. Recent research has shown that there is a strong link between genetic pathways that cause brain develop and mutations in that pathway that result in brain overgrowth. PI3K-AKT
Recent studies have shown that mutations in phosphoinositide 3-kinase (PI3K) and AKT (also known as protein kinase B) pathway have been identified in MCAP and MPPH. This pathway has proven to be an integral part of brain growth and development and is an area of interest to many researchers who study the cause of megalencephaly. Mutations in this pathway have been shown to cause a gain of function in the activation of the PI3K-AKT pathway. This cellular pathway is critical in the regulation of diverse cell functions including, cell growth, proliferation, metabolism, survival, apoptosis, angiogenesis, tumorigenesis and most importantly in regards to megalencephaly, brain development. AKT is a crucial signaling molecule part of the PI3K pathway and is also involved in many cellular functions. These functions include, brain development, synaptic plasticity and neurodevelopment. Loss of function in AKT can cause microcephaly in humans while inactivation of the pathway can cause hemimegalencephaly.
Vibratory angioedema is a form of physical urticaria that may be an inherited autosomal dominant trait, or may be acquired after prolonged exposure to occupational vibration. : 155

See also
Urticaria
Skin lesion
List of cutaneous conditions


== References ==