title: Neonatal macrocephaly: cerebral primitive neuroectodermal tumor or neuroblastoma as an infrequent cause--a case report and review of the literature.
abstract: We report a male term newborn presenting with a congenital macrocephaly 3.5 standard deviations above the median, with a wide and tense anterior fontanel, splayed calvarial sutures, and muscular hypotonia. Antenatal head circumferences were repeatedly below the median. A postnatal head ultrasound showed a large right intracerebral mass with right lateral ventricle compression, right temporal horn dilation, and right frontal horn enlargement with lateral displacement. Additional imaging by computed tomography scan and magnetic resonance imaging was performed. A decompression was performed and histology, immunohistochemistry, and molecular biology supported the diagnosis of a primitive neuroectodermal tumor. A MYCN gene amplification assay remained negative. The incidence of neonatal brain tumors is between 1.4 and 4.1/100,000 live births. Their most common presentation is macrocephaly, hydrocephalus, stillbirth, or diagnosis by pre- or postnatal imaging. Although hydrocephaly and intra- or extracranial hemorrhage are the most frequent causes of congenital macrocephaly, this should be initially investigated by head ultrasound. A suspected malignancy will be confirmed by histopathology, immunohistochemistry, and molecular biology.
authors.affiliation: Division of Neonatology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Gregor W
authors.initials: GW
authors.lastname: Kaczala
authors.forename: Kenneth J
authors.initials: KJ
authors.lastname: Poskitt
authors.forename: Paul
authors.initials: P
authors.lastname: Steinbok
authors.forename: Glenda
authors.initials: G
authors.lastname: Hendson
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
authors.forename: Alfonso J
authors.initials: AJ
authors.lastname: Solimano
mesh_terms: D001932:Brain Neoplasms / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009447:Neuroblastoma / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D018242:Neuroectodermal Tumors, Primitive / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography