Macrocephaly Clinical Presentation

The presentation varies depending upon the underlying etiology. The evaluation includes a detailed history and thorough physical examination of the child and parents. Depending upon the clinical findings, further assessment may accordingly be performed. History should be assiduously sought. The following aspects must be assessed:

• Age at the onset of the disease
• Birth history - with information about the birth weight, length, and head size
• History of development and growth - with special attention paid to the chronology of attainment of milestones; and subsequently regression, if any. Time of closure of fontanels should also be established.
• History of other associated features (e.g., headache, vomiting, seizures, cognitive decline)
• History of fever, central nervous system infection, head injury, or intracranial hemorrhage
• Family history - metabolic disorders, neurocutaneous disorders, macrocephaly, and consanguineous marriages

A detailed and methodical approach is necessary for the examination of these children.

General physical examination

The physical exam should assess for the following:

• Dysmorphic facial features
• Facial angiofibromas
• Port wine stain
• Periungual fibromas
• Ashleaf macules
• Shagreen patches
• Cataracts
• Retinal hemartomas
• Papilledema
• Optic atrophy
• Assessment of the fontanels in infants younger than two years of age
• Transillumination of the skull in infants younger than one year of age
• Skeletal deformities.
• Weight and length assessment - The child's weight and length must be measured on each visit and values should be plotted on standard curves to monitor growth.

Measurement of head size or occipitofrontal circumference (OFC)

The OFC is measured with a measuring tape completely encircling the head positioned over the widest circumference, including an area 1 to 2 cm above the root of the nose anteriorly and posteriorly the most prominent portion of the occiput; with the ears avoided. The measured value should be plotted on a standard curve to monitor the change in head size over time.

Various gender-specific growth charts have been published, but the Centers for Disease Control (CDC) currently recommends that children in the United States between the ages of 0 and 2 years old are tracked with the World Health Organization (WHO) growth charts, and with the CDC growth charts after children turn 2 years old. Minor differences do exist between the two charts. Clinicians can easily tell the difference because charts from WHO data tend to stop at 24 months of age, whereas the charts from CDC data extend to 36 months of age. ^{[5, 6]}

Neurologic assessment

A neurologic exam should assess the following:

• Cognitive level 
• Tone - hypotonia, spasticity
• Deep tendon reflexes - may be exaggerated in leukodystrophies and other central nervous system disorders
• Plantar responses

Systemic examination

A systemic exam should assess the following:

• Hepatosplenomegaly - associated with storage diseases
• Congenital heart disease