How common is benign macrocephaly?

Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric population (1). It encompasses a broad range of clinical entities ranging from benign familial macrocephaly and Benign External Hydrocephalus (BEH) to more than 200 genetic disorders.

Can a child with macrocephaly be normal?

Macrocephaly is a term that means “large head.” The word doesn’t denote a harmful condition. A large head can be a completely normal and healthy condition if a large head size is typical in your family. Your child’s healthcare provider will determine if a medical condition is causing the macrocephaly.

Can macrocephaly be seen on ultrasound?

Macrocephaly is defined as an enlargement of the head circumference above the 98th percentile or greater than two standard deviations above the mean normalized for age and gender. The diagnosis of enlarged head circumference can be made by ultrasound, during pregnancy.

How do you assess macrocephaly?

Investigation modalities for the evaluation of macrocephaly are primarily radiology based. The main purpose is to detect intracranial abnormalities. The options that may be considered include skull radiography (antero-posterior and lateral views) and ultrasonography of the skull (before closure of anterior fontanel).

At what age is macrocephaly diagnosed?

Diagnosis of Macrocephaly From birth to about age 1 or 2 years, children grow rapidly. After this rapid infant… read more (the measurement of the head around its largest area) during routine physical examinations.

What is benign macrocephaly?

Benign familial macrocephaly is an inherited condition. It happens in families predisposed to having larger heads. Sometimes there is a problem with the brain, such as hydrocephalus or excess fluid. Underlying conditions will require treatment.

Does macrocephaly run in families?

One of the most common reasons for macrocephaly is something that doctors call “benign familial macrocephaly.” In other words, big heads run in your family. A doctor might determine that a baby’s big head is inherited by measuring the heads of the parents.

Can neuroimaging help in the evaluation of macrocephaly?

Neuroimaging plays an important role in the evaluation of macrocephaly, especially in the metabolic subtype which may not be overtly apparent clinically. This article outlines the diverse etiologies of macrocephaly, delineates their clinical and radiographic features, and suggests a clinicoradiological algorithm for evaluation.

What is the pathophysiology of macrocephaly?

Macrocephaly can be the presenting clinical finding in a range of neurologic conditions that range from benign enlargement of subarachnoid spaces to tumors and metabolic disorders resulting from abnormal prenatal or postnatal increases in the volume of one of the intracranial compartments while the cranial sutures are open.

How is macrocephaly evaluated without sedation in a brain MRI?

If MRI is available, quick evaluation of ventricular caliber and intracranial anatomy can be performed without sedation with ultrafast T2-weighted sequences. Sedation or general anesthesia is usually needed for a full diagnostic brain MRI examination that includes high-resolution or volumetric sequences. Approach to Macrocephaly by Compartments

Should aht be included in the differential diagnoses of macrocephaly?

Although it is important to include AHT in the differential diagnosis of macrocephaly in children with SDH, the aforementioned classic imaging features should suggest glutaric aciduria type 1 as the cause [26] (Fig. 1D). Enlarged Ventricles (Hydrocephalus)