Macrocephaly: Pictures, causes, and treatment

In many cases, this condition is benign or harmless. In other cases, it may indicate an underlying medical condition, such as a genetic syndrome or a brain tumor.

In this article, learn about the causes of macrocephaly and how doctors diagnose and treat the potential underlying medical conditions.

What is macrocephaly?

Macrocephaly means big head, and it is the name for a condition in which an infant or child has an abnormally large head size.

For a doctor to diagnose macrocephaly, the measurement of the head around its widest part needs to be larger than the 98th percentile.

Macrocephaly may sometimes be a sign of an underlying condition that requires treatment.

In other cases, it may occur due to genetics, including a family history of macrocephaly. If this is the case, the condition will be harmless.

The primary sign of macrocephaly is an unusually large head. In cases of benign familial macrocephaly, this will be the only symptom.

If an infant has an underlying condition that is causing the macrocephaly, they will present with additional symptoms. These may include:

  • delays reaching developmental milestones
  • a fast-growing head
  • comorbidity with other conditions, such as autism
  • mental disorders

A doctor will typically continue to monitor the infant after the diagnosis. The doctor will also ask parents or caregivers to watch for the following signs:

  • excessive sleepiness
  • unusual eye movement
  • poor feeding
  • vomiting
  • a bulging soft spot
  • excessive irritability

The treatment for macrocephaly will vary depending on the underlying cause. An infant with benign familial macrocephaly will not usually require any treatment.

Infants whose macrocephaly stems from a genetic condition may require life-long treatment and support, including:

  • occupational therapy
  • behavioral therapy
  • speech and language therapy
  • physical therapy

An infant who has a fluid buildup or bleeding in the brain will often require prompt surgery to reduce the pressure and prevent further complications.

Doctors may use a variety of methods to treat a brain tumor, including:

  • surgery
  • chemotherapy
  • steroids
  • radiotherapy

Outlook

The outlook largely depends on the underlying condition causing the macrocephaly. Infants with benign familial macrocephaly have a good outlook and will not usually experience any complications.

A child who has macrocephaly as a result of an underlying condition, such as a brain tumor or a genetic syndrome, will require an individualized treatment plan.

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