Increased head circumference, macrocephaly: What's it, causes, symptoms, diagnostics, treatment, prevention

Increased head circumference; Macrocephaly

What is macrocephaly?

Macrocephaly is a medical term, used to describe an abnormally large head circumference. Although the term is often used interchangeably with "megalocephaly", which refers to the increased size of the brain, macrocephaly can be caused by many factors, including increased amounts of fluid or other substances in the skull, or simply having more, than average head size.

Macrocephaly is usually diagnosed in infants and young children.. In some cases, it may be present at birth., while others may develop over time. It is important to note, that macrocephaly by itself does not necessarily indicate disease.

Causes of macrocephaly

There are a number of factors, which may contribute to the development of macrocephaly:

• Genetic factors. In some cases, macrocephaly can be inherited. Some genetic diseases, such as Sotos syndrome or familial macrocephaly, can cause an abnormally large head size.
• Gidrocefaliя. This condition occurs when there is too much cerebrospinal fluid in the brain., which causes expansion of the skull.
• Benign external hydrocephalus. This condition is characterized by an accumulation of fluid between the brain and skull., leading to head enlargement. But, unlike hydrocephalus., it usually does not cause other neurological symptoms.
• Craniosynostosis. This state occurs, when the sutures between the bones of the skull fuse prematurely, which leads to the wrong shape of the head.
• Tumors. In rare cases, a brain or skull tumor can cause macrocephaly.
• Mucopolysaccharidosis. Disease, in which the body cannot break down long chains of sugar molecules (Gurler or Morquio syndrome).
• Canavan disease (state, that affects the, how the body breaks down and uses protein, called aspartic acid).
• Bleeding inside the skull.
• Other diseases. Some diseases, such as neurofibromatosis, hemimegalencephaly or megalencephaly-capillary malformation syndrome, can cause an increase in head size.

Symptoms of macrocephaly

The primary symptom of macrocephaly is an abnormally large head circumference.. However, this in itself does not necessarily indicate a disease.. Other symptoms may include:

• Bulging fontanelles (soft spots on the head) in infants.
• Convulsions
• Poor appetite and irritability in infants
• Headache
• Vomiting
• Vision problems

When to see a doctor

If you notice, that your child's head circumference is larger than average or has any of the above symptoms, it is important to contact your child's doctor. It can help determine, whether further testing or treatment is required.

Questions, that your doctor may ask

If you bring your child to the doctor with concerns about macrocephaly, he can ask different questions, to help determine the root cause. Some questions, which they can ask, include:

• When did you first notice, that your child's head is larger than average?
• Did they experience any other symptoms, such as headaches or seizures?
• Does anyone in your family have an abnormally large head size??
• Has your child had any imaging studies?, such as computed tomography or magnetic resonance imaging?
• What other illnesses or surgeries has your child had in the past??

Diagnosis of macrocephaly

The diagnosis of macrocephaly usually includes a physical examination to measure the circumference of the child's head and evaluate any other neurological symptoms.. The health worker may also ask about family history, milestones and any other diseases or surgeries, carried by the child.

If further evaluation is needed, imaging studies may be ordered to assess the condition of the brain and skull, such as computed tomography or magnetic resonance imaging. Blood tests may also be ordered to check for genetic disorders or other underlying medical conditions..

Treatment of macrocephaly

Treatment for macrocephaly will depend on the underlying cause. In some cases, treatment may not be required, if macrocephaly is not associated with any other diseases.

If the cause of macrocephaly is hydrocephalus or benign external hydrocephalus, treatment may include a shunt to drain excess cerebrospinal fluid from the brain.

If the cause of macrocephaly is craniosynostosis, surgery may be required to correct premature fusion of the skull bones.

If the cause of macrocephaly is a tumor, treatment may include surgery to remove the tumor or radiation therapy.

In cases, when macrocephaly is caused by a genetic disorder, treatment may include ongoing monitoring and supportive care to manage symptoms and prevent complications.

Home treatment for macrocephaly

There is no specific home treatment for macrocephaly.. However, it is important to follow all treatment plans, doctor's appointment, and attend subsequent appointments, to monitor the baby's head size and overall health.

If your child is experiencing headaches or other discomfort, associated with macrocephaly, over-the-counter pain relievers may be recommended, such as acetaminophen. Always check with your child's doctor, before giving any medication.

Prevention of macrocephaly

Since macrocephaly can be caused by various causes, there is no definite way to prevent it. However, early detection and treatment of any underlying conditions can help prevent complications and manage symptoms..

It is important to regularly undergo preventive examinations of the child with the attending physician., to follow its growth and development. If you have any concerns about your child's head size or any other symptoms, do not hesitate to contact your doctor.

References and literature

Bamba V, Kelly A. Assessment of growth. In: Kliegman RM, St. Geme JW, Bloom NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 27.

Mitchell AL. Congenital abnormalities. Disorders in head shape and size. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin’s Neonatal-Perinatal Medicine. 11th ed. Philadelphia, PA: Elsevier; 2020:chap 30.