Macrocephaly : Signs, Symptoms, Risks, Complications, Treatment, Diagnosis, Outlook

Macrocephaly is a term used for an unusually large head and is most often a symptom of complication of a condition of the brain, such as hydrocephalous. Benign familial macrocephaly is a condition that runs in family and is inherited. In this, the families are predisposed to having a larger head. The benign extra-axial collection is a condition in which there is fluid in the brain but not as much that would require treatment.

There are a few other conditions that can lead to macrocephaly, which include:

• Intracranial bleeding
• Brain tumors
• Chronic hematomas
• Certain infections
• Some genetic syndromes and metabolic conditions
• Thickened bone in the head
• Soto’s syndrome
• Alexander disease

Macrocephaly is diagnosed if the measurement of the head is bigger than 97% around the head.⁽¹⁾ The underlying condition in macrocephaly would need treatment.

An enlarged head is the only symptom in the case of familial macrocephaly.

If macrocephaly results from an underlying condition, there may be additional symptoms depending on the condition. These may include:

• Delayed milestones
• Mental disorders
• Other comorbidities

The infants are continuously monitored by the doctor and parents after the diagnosis. The need to look for the following signs:

• Vomiting
• Excessive sleepiness
• Excessive irritability
• Unusual eye movement
• Difficulty in feeding

The complication may vary depending on the condition causing the enlarged head.

The complications include the following:

• If macrocephaly is due to malfunctioning of the brain, the complications may include delay in development, partial paralysis, seizures, and dysfunction of the brain cortex and spinal cord.⁽²⁾
• If hydrocephalus is the cause, the complication may include delay in intellectual development and physical disabilities.⁽³⁾
• If the neurocutaneous disorder is causing macrocephaly there may be increased seizures and risk of developing certain type of tumors.⁽⁴⁾
• In the case of Soto’s syndrome, there may be a risk of developmental delays and problems with coordination.

Macrocephaly is often diagnosed during a routine checkup.

During the physical examination of an infant, head circumference is taken by wrapping the tape around the head. If macrocephaly is suspected, proper medical history is taken and imaging tests including MRI, ultrasound, and CT scans are ordered. These tests can help a doctor determine if there is the fluid build-up that is increasing pressure in the brain.

Increased pressure may lead to vomiting, headaches, slowed development, increased irritability, bulging spots on the top of the head, and eyes that stay looking down.

The treatment of macrocephaly depends on the cause of it. If there is benign familial macrocephaly, no treatment may be needed.

If an infant gets macrocephaly from genetic inheritance, life-long support and care may be needed, including:

• Physical therapy
• Occupational therapy
• Speech and language therapy
• For the fluid build-up or bleeding in the brain referral to a neurosurgeon may be needed.
• A brain tumor may need to be treated with surgery, chemotherapy, steroids, or radiotherapy.

Just like symptoms and treatment, the outlook for macrocephaly also depends on the condition causing it. Those with familial macrocephaly mostly have a good outlook and would not experience any symptoms. If there is any underlying condition such as a brain tumor or genetic syndrome, an individual treatment plan may be needed.

Macrocephaly is a term mostly used for infants born with or developing large head gradually. If the macrocephaly is benign, it may outgrow as the child grows. Treatment may be needed in other conditions.