Megalocephaly

Megalocephaly is a condition characterized by an abnormally large, heavy, and usually malformed brain. It is a type of cephalic disorder which can be congenital or it can develop in the first few years of life. Megalocephaly is thought to be related to a disturbance in the regulation of cell production in the brain.

Causes

Megalocephaly can be caused by a number of conditions, both genetic and acquired. Some of the conditions that can cause megalocephaly include Alexander disease, Canavan disease, Sotos syndrome, and macrocephaly-capillary malformation (M-CM) syndrome. Other causes can include metabolic and hormonal disorders, such as hypothyroidism, and disorders affecting the brain's white matter.

Symptoms

The most obvious symptom of megalocephaly is a larger-than-normal head. Other symptoms can include developmental delay, intellectual disability, epilepsy, and coordination problems. Some people with megalocephaly may have a normal intelligence quotient (IQ), but others may have intellectual disability.

Diagnosis

Diagnosis of megalocephaly can be made through a physical examination and measurement of the head circumference. Imaging studies, such as MRI or CT scan, can also be used to confirm the diagnosis and to look for any underlying causes.

Treatment

There is no cure for megalocephaly, and treatment is symptomatic and supportive. Treatment may include physical and occupational therapy, and medication for seizures. In some cases, surgery may be needed to relieve pressure on the brain.

Prognosis

The prognosis for individuals with megalocephaly varies and depends on the underlying cause and the presence of associated conditions. Some individuals with megalocephaly may have a normal lifespan, while others may have a shortened lifespan due to associated conditions.

See also

• Macrocephaly
• Microcephaly
• Cephalic disorder

Megalocephaly Resources
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