Megalencephaly

If you have megalencephaly, your symptoms can range from mild to severe. They depend on the underlying cause of your condition. If you have benign familial megalencephaly, you may have no symptoms. You may have normal to advanced intelligence. In other cases, your facial features may have an abnormal size or shape. If another disorder causes megalencephaly, you may have cognitive impairment, seizures, or other symptoms.

Common neurological symptoms include:

• delayed development of your gross motor skills, including your ability to hold your head upright, change position, roll over, sit, and stand
• delayed speech development
• corticospinal dysfunction, in which your brain doesn’t send impulses to your spinal cord properly
• intellectual disability
• defects in your muscle tone
• body asymmetry
• paralysis
• an inability to coordinate and control your movements
• seizures
• visual irregularities

Defects in the way that your brain controls cell production cause megalencephaly. In normal brain cell growth, your body produces the correct number of brains cells. It produces them in the right place at the right time. Megalencephaly occurs when your brain produces too many new brain cells or cells that are too large. It can also occur when metabolic byproducts and matter build up in your brain.

Genetic factors and genetic disorders can cause megalencephaly. For example, the condition can result from:

• Alexander disease
• neurofibromatosis
• tuberous sclerosis
• overgrowth disorders, such as Sotos syndrome and Beckwith-Wiedemann syndrome
• chromosomal disorders, such as Klinefelter’s syndrome

Non-genetic causes can also lead to megalencephaly. For example, disorders affecting your cerebral spinal fluid can cause it.

Sometimes, the doctor can’t identify the cause.

Megalencephaly is three to four time more common in males than females, reports The Gale Encyclopedia of Neurological Disorders. It affects between 10 and 30 percent of patients with macrocephaly. Asymptomatic cases may not be reported, so the incidence is unknown.

Your doctor will perform a complete physical exam to diagnose megalencephaly. They’ll measure the circumference of your head. They may also measure the heads of your immediate relatives. They may also take your personal and family medical history.

In some cases, your doctor might perform developmental and neurological exams. For example, they may order MRI or CT scans. This can help them examine the appearance and size of your brain. They may also order laboratory tests. This can help them check for genetic and chromosomal disorders.

No cure for megalencephaly is available. However, your doctor may prescribe treatments for your symptoms, underlying disorders, or associated disabilities.

For example, your doctor may prescribe medications. Anti-epileptic drugs can help control seizures. Physical, speech, and occupational therapy may help you manage physical or neurological disabilities.

If you have megalencephaly, your long-term outlook depends on the severity of your condition.

In some cases, your symptoms may be very mild. They may require little to no treatment. They may have little impact on your life.

In other cases, your symptoms may be severe. For example, seizures, paralysis, and cognitive impairments can be limiting. If you have these symptoms, you may need physical, speech, or occupational therapies. Children with these symptoms may also require special education classes.

If you have hemimegalencephaly, the long-term outlook is poor. This condition is rare. It can lead to cognitive impairment, severe seizures, and paralysis on one side of your body.

Ask your doctor for more information about your specific diagnosis and long-term outlook.

Megalencephaly isn’t preventable. If you have a family history of the condition, talk to your doctor about genetic counseling. This can help you assess your risk of developing the condition. It can also help you assess the risk for your children or future children.