Neonatal Macrocephaly: Cerebral Primitive Neuroectodermal Tumor or Neuroblastoma as an Infrequent Cause-A Case Report and Review of the Literature

Gregor W. Kaczala; Kenneth J. Poskitt; Paul Steinbok; Glenda Hendson; Patrice Eydoux; Alfonso J. Solimano

doi:10.1055/s-2007-986698

American Journal of Perinatology, Table of Contents

Am J Perinatol 2007; 24(9): 507-509
DOI: 10.1055/s-2007-986698

Neonatal Macrocephaly: Cerebral Primitive Neuroectodermal Tumor or Neuroblastoma as an Infrequent Cause-A Case Report and Review of the Literature

Gregor W. Kaczala¹ , Kenneth J. Poskitt² , Paul Steinbok³ , Glenda Hendson⁴ , Patrice Eydoux⁵ , Alfonso J. Solimano¹

¹Division of Neonatology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada
²Department of Radiology, University of British Columbia, Vancouver, British Columbia, Canada
³Division of Pediatric Neurosurgery, University of British Columbia, Vancouver, British Columbia, Canada
⁴Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada
⁵Division of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

Abstract

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.

KEYWORDS

Neonatal - macrocephaly - primitive neuroectodermal tumor (PNET) - hydrocephalus - neuroblastoma

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References

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Alfonso J SolimanoM.D. B.Sc. E.C.F.M.G. A.B.N.P.M. A.B.P. F.L.E.X. FRCPC L.M.C.C.

Clinical Professor, Division of Neonatology

Department of Pediatrics, University of British Columbia

4480 Oak Street, Vancouver, BC, V6H 3V4 Canada