Macrocephaly in infants and children: Etiology and evaluation
- Julie A Boom, MD
Julie A Boom, MD
- Assistant Professor
- Baylor College of Medicine
- Section Editors
- Jan E Drutz, MD
Jan E Drutz, MD
- Section Editor — General Pediatrics
- Professor of Pediatrics
- Baylor College of Medicine
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
- Helen V Firth, DM, FRCP, DCH
Helen V Firth, DM, FRCP, DCH
- Section Editor — Genetics
- Consultant Clinical Geneticist
- Addenbrooke's Hospital, Cambridge, UK
The measurement of head circumference (also called occipitofrontal circumference, OFC), a direct reflection of head growth, is an important step in the evaluation of childhood growth and development. Deviations from normal head growth may be the first indication of an underlying congenital, genetic, or acquired problem (eg, congenital infection, genetic syndrome, hydrocephalus, intracranial hemorrhage, storage disease, or neoplasm) [1-4]. Many genetic conditions are associated with an abnormal pattern of head growth; the earlier these conditions are detected, the earlier appropriate treatment, services, and genetic counseling can be provided .
The etiology and evaluation of macrocephaly in infants and children will be discussed here. The etiology and evaluation of microcephaly are discussed separately. (See "Microcephaly in infants and children: Etiology and evaluation".)
MONITORING HEAD GROWTH
Head growth is affected by growth and alterations in the contents of the cranium (eg, brain, blood, cerebrospinal fluid [CSF], and bone) and the timing of these changes in relation to closure of the fontanelles and sutures. Changes in the volume of any component before the closure of the fontanelles and sutures may alter the occipitofrontal circumference (OFC). In contrast, changes in volume that occur after closure of the fontanelles and sutures bring about compensatory changes in the other components. (See "The pediatric physical examination: HEENT", section on 'Anterior and posterior fontanelles'.)
When to measure — OFC should be measured in all children at health maintenance visits between birth and three years of age. OFC should also be measured at each visit in children of all ages with neurologic or developmental complaints.
Measuring technique — The measuring tape should encircle the head and include an area 1 to 2 cm above the glabella anteriorly and the most prominent portion of the occiput posteriorly (picture 1). Measurement of OFC in the newborn may be unreliable until the third or fourth day of life since it may be affected by caput succedaneum, cephalohematoma, or molding . In older infants, the accuracy of the measurement may be affected by thick hair and deformation or hypertrophy of the cranial bones.
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- MONITORING HEAD GROWTH
- When to measure
- Measuring technique
- Reference standards
- Increased brain
- - Anatomic megalencephaly
- - Metabolic megalencephaly
- Increased CSF
- - Hydrocephalus
- - Benign enlargement of the subarachnoid space
- Increased blood
- Increased bone
- Increased ICP
- - Mass lesions
- Postnatal macrocephaly
- - Overview of approach
- Elevated ICP
- Syndromic features
- Developmental delay
- Normal development
- - History
- - Physical examination
- - Parental OFC
- - Weaver curve
- - Neuroimaging
- Plain radiographs
- MRI and CT
- - Other tests
- - Referral indications
- Prenatal macrocephaly
- SUMMARY AND RECOMMENDATIONS