Definition:
Megalencephaly is a form of cephalic disease characterized by an abnormally large, heavy, and malfunctioning brain. This disorder is also known as macrencephaly.
Diagnosis:
Megalencephaly can be diagnosed on the basis of clinical findings and results of standard imaging studies such as CT (computed tomography) scans or MRI (magnetic resonance imaging) scans.
Treatment:
Treatment for megalencephaly is mostly symptomatic and supportive. No medication or other treatment techniques can cure the disorder; therefore, therapy is focused on managing symptoms; reducing discomforts; and improving the patient's quality of life.
Symptoms and Signs:
In babies or children with megalencephaly, the weight of the brain is usually greater than average for their age and sex. Head enlargement may already be apparent at birth and may continue to expand in size through the early years of life. This characteristic head enlargement may appear alongside these common symptoms of megalencephaly: developmental delays; dysfunctions in the brain cortex and spinal cord; seizures and convulsive disorders.
Causes:
Megalencephaly is usually caused by a range of underlying conditions, including: Toriello-Carey syndrome; Neurofibromatosis type 1; Riley-Smith syndrome; Tay-Sachs disease; Sotos syndrome; Waisman-Laxova syndrome; Alpha-L-iduronidase deficiency; Proteus syndrome; Epidermal naevus syndrome; Dysosteosclerosis; Robinow-Silverman-Smith syndrome; Alexander disease; Acrocephalopolysyndactyly type 2; Alpha-mannosidase deficiency; I-cell disease; van der Knaap disease; Multiple hamartoma syndrome; Wiedemann-Rautenstrauch syndrome; and a number of other diseases.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
