Megalencephaly
Megalencephaly 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.
Megalencephaly Definition
Megalencephaly is a form of cephalic disease characterized by an abnormally large, heavy, and malfunctioning brain. This disorder is also known as macrencephaly.
Megalencephaly 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.
Megalencephaly 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.
Megalencephaly 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.