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etiology, acuity of symptoms, need for sedation, and availability. The lack of
radiation exposure is a major advantage of MRI over CT. Neurology and
neurosurgical consultations are essential to determine further testing. Any
newborn with signs of increased intracranial pressure or seizures should have
emergent evaluation and inpatient admission.
TABLE 96.1
EXAMPLES OF MACROCEPHALY IN NEONATES AND INFANTS
Brain (Macroencephaly)
enlargement

Increased CSF production

Isolated (familial megalencephaly)
Nonisolated
Fragile X syndrome
Neurocutaneous syndromes
Achondroplasia
Soto syndrome
Beckwith–Weidman
Metabolic
Leukodystrophy
Lysosomal storage disease
Skull bones expansion
Bone marrow expansion due to chronic
hemolytic anemia
Skeletal dysplasia
Osteogenesis imperfecta
Vascular anomalies
Hemorrhage
Arteriovenous malformations


Hydrocephalus
Benign extracranial fluid
Hydranencephaly
Dandy–Walker malformation
Choroid plexus papilloma

Increased CSF pressure
Meningitis
Pseudotumor
Lead poisoning
Metabolic
Mass effect
Tumor
Abscess
Cyst

Table adapted from Boom JA. Macrocephaly in infants and children: Etiology and evaluation. UpToDate
(serial online). 2014. Available at . Updated March 13, 2014. Accessed February 27, 2015; Cohen A. Disorders of
head shape and size. In: Fanaroff, Martin, eds. Neonatal perinatal medicine . 8th ed. Philadelphia, PA:
Mosby; 2006:998–999.

Hydrocephalus



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