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

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
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Publication History

Publication Date:
01 October 2007 (online)

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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

REFERENCES

  • 1 Amler L C, Corvi R. A reciprocal translocation (1;15) (36.2;q24) in a neuroblastoma cell line is accompanied by DNA duplication and may signal the site of a putative tumor suppressor gene.  Oncogene. 1995;  10 1095-1101
    PubMedGoogle Scholar
  • 2 Bader J L, Miller R WUS. Cancer incidence and mortality in the first year of life.  Am J Dis Child. 1979;  133 157-159
    PubMedGoogle Scholar
  • 3 Oi S, Kokunai T, Matsumoto S. Congenital brain tumors in Japan (ISPN Cooperative Study): specific clinical features in neonates.  Childs Nerv Syst. 1990;  6 86-91
    CrossrefPubMedGoogle Scholar
  • 4 Isaacs H. Perinatal brain tumors: a review of 250 cases.  Pediatr Neurol. 2002;  27 249-261
    CrossrefPubMedGoogle Scholar
  • 5 Isaacs H. Perinatal brain tumors: a review of 250 cases.  Pediatr Neurol. 2002;  27 333-342
    CrossrefPubMedGoogle Scholar
  • 6 Wakai S, Arai T, Nagai M. Congenital brain tumors.  Surg Neurol. 1984;  6 597-609
    PubMedGoogle Scholar

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