Macrocephaly

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Macrocephaly
Synonyms	Megalocephaly
Pronounce	N/A
Specialty	N/A
Symptoms	Increased head circumference, developmental delay, neurological symptoms
Complications	Hydrocephalus, seizures, cognitive impairment
Onset	Infancy or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic disorders, hydrocephalus, brain tumors, metabolic disorders
Risks	Family history, genetic syndromes
Diagnosis	Physical examination, imaging studies (MRI, CT scan)
Differential diagnosis	Hydrocephalus, craniosynostosis, brain tumor
Prevention	N/A
Treatment	Observation, surgery for underlying causes
Medication	N/A
Prognosis	Varies depending on underlying cause
Frequency	Common in certain genetic conditions
Deaths	N/A

Measuring head circumference as part of a pediatric assessment.

Macrocephaly is a medical condition characterized by an abnormally increased head circumference. While the head size is larger than usual, it's crucial to differentiate it from other cranial abnormalities. Macrocephaly can be a result of several underlying factors, including hydrocephalus, an enlarged brain, and cranial hyperostosis.

Introduction

Macrocephaly, which literally means "large head", can be either congenital (present at birth) or can develop later in life. It is often identified when the head circumference measures greater than the 98th percentile for a person's age and gender.

Causes

Macrocephaly can be attributed to a variety of causes, some of which include:

Hydrocephalus

Also known as "water on the brain", hydrocephalus occurs when there's an excessive accumulation of cerebrospinal fluid within the brain's ventricles, leading to increased intracranial pressure and head enlargement.

Megalencephaly

This refers to an abnormally large brain, which is different from hydrocephalus as the brain tissue itself is enlarged rather than just the cerebrospinal fluid spaces.

Cranial Hyperostosis

A condition where there's an excessive growth of the bones of the skull.

Other Causes

• Genetic and metabolic disorders.
• Infections during pregnancy.
• Certain genetic syndromes, such as Beckwith-Wiedemann syndrome.

Diagnosis

Macrocephaly is usually diagnosed through:

• Physical examination and measurement of the head circumference, plotted on a growth chart.
• Imaging studies such as CT or MRI to visualize the brain structure and ascertain the cause.
• Genetic testing in cases where a genetic syndrome is suspected.

Treatment

Treatment for macrocephaly depends on its underlying cause:

• For hydrocephalus, a shunt may be placed to drain the excess cerebrospinal fluid.
• Surgical intervention in cases where the bone growth leads to pressure on the brain.
• Addressing underlying genetic or metabolic conditions with appropriate therapies.

Complications

If left untreated, macrocephaly can lead to:

• Developmental delays.
• Intellectual disabilities.
• Physical complications due to increased head weight.

See Also

• Microcephaly
• Craniosynostosis
• Pediatric Neurology

References

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