Macrocephaly

Macrocephaly is defined as head circumference 2 standard deviations (SD) larger than the mean for age. This situation may arise from the size of the brain or other contents of the skull, such as CSF, blood, or bone. Accelerated head circumference growth, usually associated with increased intracranial pressure, needs to be investigated expeditiously.

Differential Diagnosis

• Communicating hydrocephalus
  –Benign
  –Post-hemorrhage
  –Postinfectious
  –Choroid plexus papilloma
  –Vein of Galen aneurysm
• Noncommunicating hydrocephalus
  –Arnold-Chiari malformation
  –Aqueductal stenosis
  –Mass lesion
       –Primitive neuroectodermal tumor
       –Ependymoma
       –Astrocytoma
  –Abscess
  –Hemorrhage
       –Intraventricular
  –Subarachnoid
  • Increased brain size
    –Familial
    –Sotos syndrome
    –Neurofibromatosis type I (NF1)
    –Tuberous sclerosis (TS)
    –Incontinentia pigmenti
    –Globoid cell leukodystrophy (Krabbe)
    –Alexander disease
    –Canavan disease
    –Maple syrup urine disease
    –Tay-Sachs disease
    –Glutaric aciduria type II
    –Hurler syndrome
  • Increased bone
    –Anemia
    –Hyperphosphatemia
    –Rickets
    –Osteogenesis imperfecta
  • Neoplasm

  Workup and Diagnosis

  • Confirm and plot head circumference (HC)
  • History
    –Signs of neurologic dysfunction
    –Headache
    –Developmental delay
    –Paroxysmal movements
    –Prenatal/birth history (gestational age, weight, HC)
    –Family history of macrocephaly
  • Physical exam
    –Measure the parents’ HC and plot it on chart
    –Obtain previous HC measurements
    –Acceleration of head growth is a more ominous sign than stably growing large head
    –Tension of the fontanelle while the child is sitting up
    –Skin exam looking for café au lait spots (in NF), hypomelanotic macules, Shagreen patches (in TS)
    –Eye exam for a cherry red spot (in Tay-Sachs)
    –Funduscopic exam may indicate increased intracranial pressure (e.g., papilledema, loss of venous pulse)
  • Neuroimaging
    –CT or even head US in younger child with open fontanelle for hydrocephalus
    –MRI for evaluating the white matter in diagnosing leukodystrophies such as Krabbe as well as defining brainstem abnormalities such as aqueductal stenosis or Arnold-Chiari malformation

  Treatment

  • For hydrocephalus, surgical intervention is necessary
    –Ventriculoperitoneal shunt
    –Ventriculoatrial shunt
  • For post-hemorrhagic hydrocephalus
    –Commonly seen in premature infants
    –Serial lumbar punctures to delay shunt placement
    –Hydrocephalus resolves spontaneously in the majority
  • Other causes of syndromic or nonsyndromic macrocephaly
    –Currently there are no curative treatments
    –Management involves addressing the neurologic symptoms
    –Anticipatory guidance to the caregivers

Book Source Details

• Book Title: In A Page: Pediatric Signs and Symptoms
• Author(s): Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
• Year of Publication: 2007
• Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2007 Lippincott Williams & Wilkins.

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Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2008 Williams & Wilkins.

More About Causes of Swollen head

• Back to symptom: Swollen head: Introduction (review 589 causes)
• Next Book Extract About Swollen head: HEADACHE (Differential Diagnosis in Primary Care)
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More About This Book: Title: In A Page: Pediatric Signs and Symptoms Authors: Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan Publisher: Lippincott Williams & Wilkins Copyright: 2007 ISBN: 1-4051-0427-9

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