Megalencephaly
Megalencephaly
Megalencephaly (pronounced: meh-guh-len-SEF-uh-lee) is a condition characterized by an abnormally large, heavy, and usually malfunctioning brain. The term is derived from the Greek words "megas" meaning "great" and "encephalon" meaning "brain".
Etymology
The term "Megalencephaly" is derived from the Greek words "megas" meaning "great" and "encephalon" meaning "brain". It was first used in medical literature in the late 19th century.
Symptoms
Symptoms of megalencephaly may include delayed development, seizures, cortical visual impairment, and movement disorders. The severity of these symptoms can vary widely among individuals affected by the condition.
Causes
Megalencephaly can be caused by a variety of genetic mutations. Some of these include mutations in the PIK3CA, AKT3, and PTEN genes. It can also be caused by certain metabolic disorders, such as Alexander disease and Canavan disease.
Diagnosis
Diagnosis of megalencephaly is typically made through a combination of physical examination, medical history, and imaging studies such as MRI or CT scan. Genetic testing may also be used to identify the underlying cause of the condition.
Treatment
Treatment for megalencephaly is typically focused on managing the symptoms of the condition. This may include medications to control seizures, physical therapy to improve movement, and special education services to address developmental delays.
Prognosis
The prognosis for individuals with megalencephaly varies widely and is largely dependent on the underlying cause of the condition and the severity of symptoms.
See also
External links
- Medical encyclopedia article on Megalencephaly
- Wikipedia's article - Megalencephaly
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