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'.)
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. The technique for measuring head circumference (picture 1) is discussed separately. (See "The pediatric physical examination: General principles and standard measurements", section on 'Head circumference'.)
OFC measurements are most informative when plotted over time . Normal head growth in infants and children and reference standards for monitoring head growth in healthy children are discussed separately. In the United States, the Centers for Disease Control and Prevention (CDC) recommend that the WHO growth standards ((figure 1A-B) and (calculator 1)) be used for children age zero to two years, and the CDC growth charts ((figure 2A-B) and (calculator 2)) be used for children age two to three years . (See "Normal growth patterns in infants and prepubertal children", section on 'Head growth' and "The pediatric physical examination: General principles and standard measurements", section on 'Head circumference'.)
- Stoll C. Problems in the diagnosis of fragile X syndrome in young children are still present. Am J Med Genet 2001; 100:110.
- Zvulunov A, Weitz R, Metzker A. Neurofibromatosis type 1 in childhood: evaluation of clinical and epidemiologic features as predictive factors for severity. Clin Pediatr (Phila) 1998; 37:295.
- Furuta T, Tabuchi A, Adachi Y, et al. Primary brain tumors in children under age 3 years. Brain Tumor Pathol 1998; 15:7.
- Tomita T, McLone DG. Brain tumors during the first twenty-four months of life. Neurosurgery 1985; 17:913.
- Nard JA. Abnormal head size and shape. In: Common & Chronic Symptoms in Pediatrics, Gartner JC, Zitelli BJ (Eds), Mosby, St. Louis 1997.
- Fenichel GM. Disorders of cranial volume and shape. In: Clinical Pediatric Neurology: A Signs and Symptoms Approach, 5th ed, Elsevier Saunders, Philadelphia 2005. p.353.
- Grummer-Strawn LM, Reinold C, Krebs NF, Centers for Disease Control and Prevention (CDC). Use of World Health Organization and CDC growth charts for children aged 0-59 months in the United States. MMWR Recomm Rep 2010; 59:1.
- Varma R, William, SD, Wessel HB. Neurology. In: Atlas of Pediatric Physical Diagnosis, 5th ed, Zitelli BJ, Davis HW (Eds), Mosby Elsevier, Philadelphia 2007. p.563.
- Opitz JM, Holt MC. Microcephaly: general considerations and aids to nosology. J Craniofac Genet Dev Biol 1990; 10:175.
- Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet A 2008; 146A:2023.
- Olney AH. Macrocephaly syndromes. Semin Pediatr Neurol 2007; 14:128.
- Day RE, Schutt WH. Normal children with large heads--benign familial megalencephaly. Arch Dis Child 1979; 54:512.
- Lorber J, Priestley BL. Children with large heads: a practical approach to diagnosis in 557 children, with special reference to 109 children with megalencephaly. Dev Med Child Neurol 1981; 23:494.
- Talebian A, Soltani B, Moravveji A, et al. A study on causes and types of abnormal increase in infants' head circumference in kashan/iran. Iran J Child Neurol 2013; 7:28.
- Strassburg HM. Macrocephaly is not always due to hydrocephalus. J Child Neurol 1989; 4 Suppl:S32.
- DeMyer W. Megalencephaly: types, clinical syndromes, and management. Pediatr Neurol 1986; 2:321.
- Weaver DD, Christian JC. Familial variation of head size and adjustment for parental head circumference. J Pediatr 1980; 96:990.
- Aoki N, Oikawa A, Sakai T. Serial neuroimaging studies in Sotos syndrome (cerebral gigantism syndrome). Neurol Res 1998; 20:149.
- Gleeson JG, Dobyns WB, Plawner L, Ashwal S. Congenital structural defects. In: Pediatric Neurology Principles and Practice, 4th ed, Swaiman KF, Ashwal S, Ferriero DM (Eds), Mosby Elsevier, Philadelphia 2006. p.399.
- Winden KD, Yuskaitis CJ, Poduri A. Megalencephaly and Macrocephaly. Semin Neurol 2015; 35:277.
- Zahl SM, Wester K. Routine measurement of head circumference as a tool for detecting intracranial expansion in infants: what is the gain? A nationwide survey. Pediatrics 2008; 121:e416.
- Alvarez LA, Maytal J, Shinnar S. Idiopathic external hydrocephalus: natural history and relationship to benign familial macrocephaly. Pediatrics 1986; 77:901.
- Ment LR, Duncan CC, Geehr R. Benign enlargement of the subarachnoid spaces in the infant. J Neurosurg 1981; 54:504.
- Kumar R. External hydrocephalus in small children. Childs Nerv Syst 2006; 22:1237.
- Maher CO, Piatt JH Jr, Section on Neurologic Surgery, American Academy of Pediatrics. Incidental findings on brain and spine imaging in children. Pediatrics 2015; 135:e1084.
- Hamza M, Bodensteiner JB, Noorani PA, Barnes PD. Benign extracerebral fluid collections: a cause of macrocrania in infancy. Pediatr Neurol 1987; 3:218.
- Menkes JH, Sarnat HB, Flores-Sarnat L. Malformations of the central nervous system. In: Child Neurology, 7th ed, Menkes JH, Sarnat HB, Maria BL (Eds), Lippincott Williams & Wilkins, Philadelphia 2006. p.284.
- Hellbusch LC. Benign extracerebral fluid collections in infancy: clinical presentation and long-term follow-up. J Neurosurg 2007; 107:119.
- Andersson H, Elfverson J, Svendsen P. External hydrocephalus in infants. Childs Brain 1984; 11:398.
- Gherpelli JL, Scaramuzzi V, Manreza ML, Diament AJ. Follow-up study of macrocephalic children with enlargement of the subarachnoid space. Arq Neuropsiquiatr 1992; 50:156.
- Pettit RE, Kilroy AW, Allen JH. Macrocephaly with head growth parallel to normal growth pattern: neurological, developmental, and computerized tomography findings in full-term infants. Arch Neurol 1980; 37:518.
- Nickel RE, Gallenstein JS. Developmental prognosis for infants with benign enlargement of the subarachnoid spaces. Dev Med Child Neurol 1987; 29:181.
- Bosnjak V, Besenski N, Marusić-Della Marina B, Kogler A. Cranial ultrasonography in the evaluation of macrocrania in infancy. Dev Med Child Neurol 1989; 31:66.
- Haws ME, Linscott L, Thomas C, et al. A Retrospective Analysis of the Utility of Head Computed Tomography and/or Magnetic Resonance Imaging in the Management of Benign Macrocrania. J Pediatr 2017; 182:283.
- Ravid S, Maytal J. External hydrocephalus: a probable cause for subdural hematoma in infancy. Pediatr Neurol 2003; 28:139.
- Ghosh PS, Ghosh D. Subdural hematoma in infants without accidental or nonaccidental injury: benign external hydrocephalus, a risk factor. Clin Pediatr (Phila) 2011; 50:897.
- Lago P, Rebsamen S, Clancy RR, et al. MRI, MRA, and neurodevelopmental outcome following neonatal ECMO. Pediatr Neurol 1995; 12:294.
- Canady AI, Fessler RD, Klein MD. Ultrasound abnormalities in term infants on ECMO. Pediatr Neurosurg 1993; 19:202.
- Lorch SA, D'Agostino JA, Zimmerman R, Bernbaum J. "Benign" extra-axial fluid in survivors of neonatal intensive care. Arch Pediatr Adolesc Med 2004; 158:178.
- The head. In: Pediatric Diagnosis Interpretation of Symptoms and Signs in Children and Adolescents, 6th ed, Green MG (Ed), WB Saunders, Philadelphia 1998. p.4.
- Firth HV, Hurst JA, Hall JG. Macrocephaly. In: Oxford Desk Reference: Clinical Genetics, 1st ed, Oxford University Press, Oxford 2005. p.162.
- Smith R, Leonidas JC, Maytal J. The value of head ultrasound in infants with macrocephaly. Pediatr Radiol 1998; 28:143.
- Malinger G, Lev D, Ben-Sira L, et al. Can syndromic macrocephaly be diagnosed in utero? Ultrasound Obstet Gynecol 2011; 37:72.
- Kurmanavicius J, Wright EM, Royston P, et al. Fetal ultrasound biometry: 1. Head reference values. Br J Obstet Gynaecol 1999; 106:126.
- Biran-Gol Y, Malinger G, Cohen H, et al. Developmental outcome of isolated fetal macrocephaly. Ultrasound Obstet Gynecol 2010; 36:147.
- MONITORING HEAD GROWTH
- 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