Macrocephaly Workup

Updated: Jul 08, 2016
  • Author: Sumaira Nabi, MBBS, FCPS; Chief Editor: Amy Kao, MD  more...
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Workup

Approach Considerations

Investigation modalities for the evaluation of macrocephaly are primarily radiology based. [7] 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). Computed tomography (CT) scan of the head or magnetic resonance imaging (MRI) of the head should be considered in macrocephalic children with neurodevelopmental abnormalities or features of raised intracranial pressure. Typically, CT scans are more readily accessible and can be performed without sedation, so are most appropriate to assess for an acute process. MRIs provide greater detail, in particular of the posterior fossa, so should be considered if time allows.

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Imaging Studies

Skull radiography 

Radiographs of the skull can be used to measure and document the head size. In addition, they may reveal typical findings in cases of skeletal dysplasias. Sometimes features associated with increased intracranial pressure may be evident. These include “Beaten Copper cranium” [8] with prominence of convolutional markings on the inner table of the cranial vault, thinning of the cranial bones, widening and separation of sutures, and pressure atrophy of the skull base with erosion and enlargement of the sella turcica (see images below).

Lateral view on skull radiograph of a 1-year-old b Lateral view on skull radiograph of a 1-year-old boy with macrocephaly. The increased antero-posterior diameter can be appreciated.
Antero-posterior view on skull radiograph of a 1-y Antero-posterior view on skull radiograph of a 1-year-old boy with macrocephaly.
Antero-posterior and lateral views on skull radiog Antero-posterior and lateral views on skull radiographs of a 1-year-old boy with macrocephaly.

Head ultrasound (HUS) 

This technique is fairly simple and useful in infants with macrocephaly with an open anterior fontanel, provided the infants have a normal neurological examination and no features to suggest raised intracranial pressure. [9] HUS may reveal prominent ventricles and enlargement of subarachnoid space. Once intracranial pathology is excluded, these infants require only close neurological follow up.

Computed tomography

CT scan of the head is important in cases of hydrocephalus. It is also useful in syndromic macrocephaly cases like Sturge weber syndrome and tuberous sclerosis, as calcifications are seen well on CT scan. (See images below.)

Noncontrast CT scan of brain of a 2-year-old boy s Noncontrast CT scan of brain of a 2-year-old boy showing gross hydrocephalus with paper thin brain tissue (coronal view).
Noncontrast CT scan of brain of a 2-year-old boy s Noncontrast CT scan of brain of a 2-year-old boy showing gross hydrocephalus with paper thin brain tissue (coronal view).
Noncontrast CT scan of brain of a 2-year-old boy s Noncontrast CT scan of brain of a 2-year-old boy showing gross hydrocephalus with paper thin brain tissue (coronal view).
Noncontrast CT scan of brain of a 2-year-old boy s Noncontrast CT scan of brain of a 2-year-old boy showing gross hydrocephalus with paper thin brain tissue (coronal view).

Magnetic resonance imaging

MRI of the brain not only defines the size of the ventricular chain in hydrocephalus, it can also delineate intracranial mass lesions and vascular malformations as well as identify white matter changes in cases of leukodystrophies. It can also distinguish cases of enlargement of the subarachnoid space in benign familial macrocephaly from subdural hygromas and hamartomas.

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Other Tests

Other tests that may prove helfpul for diagnosis include the following:

  • Molecular genetic testing
  • Metabolic tests
  • Tests for other associations like electrocardiogram, echocardiography, ultrasound of the abdomen, and skeletal survey.
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