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Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene.

Publication ,  Journal Article
Johnson, MD; Mitchell, AR; Troup, EC; Bhowmick, DA; Wait, SD; Aulino, J; Zhuang, Z; Weil, RJ
Published in: Pediatr Neurosurg
2004

A 4-week-old child presented with lethargy, emesis, decreased spontaneous movements, and a bulging fontanelle. Neuroimaging demonstrated a large, hemispheric, multicystic lesion with multiple enhancing nodules, which, on pathological examination, proved to be multiple, distinct hemangioblastomas. Careful molecular analysis failed to reveal alterations of the VHL gene. This represents an uncommon presentation for these tumors and suggests that genes other than VHL may be important in the genesis of these tumors.

Duke Scholars

Published In

Pediatr Neurosurg

DOI

ISSN

1016-2291

Publication Date

2004

Volume

40

Issue

3

Start / End Page

124 / 127

Location

Switzerland

Related Subject Headings

  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ubiquitin-Protein Ligases
  • Tumor Suppressor Proteins
  • Supratentorial Neoplasms
  • Neurology & Neurosurgery
  • Male
  • Infant, Newborn
  • Humans
  • Hemangioblastoma
  • 3213 Paediatrics
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Johnson, M. D., Mitchell, A. R., Troup, E. C., Bhowmick, D. A., Wait, S. D., Aulino, J., … Weil, R. J. (2004). Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene. Pediatr Neurosurg, 40(3), 124–127. https://doi.org/10.1159/000079854
Johnson, Mahlon D., Alex R. Mitchell, E Christopher Troup, Deb A. Bhowmick, Scott D. Wait, Joseph Aulino, Zhengping Zhuang, and Robert J. Weil. “Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene.Pediatr Neurosurg 40, no. 3 (2004): 124–27. https://doi.org/10.1159/000079854.
Johnson MD, Mitchell AR, Troup EC, Bhowmick DA, Wait SD, Aulino J, et al. Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene. Pediatr Neurosurg. 2004;40(3):124–7.
Johnson, Mahlon D., et al. “Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene.Pediatr Neurosurg, vol. 40, no. 3, 2004, pp. 124–27. Pubmed, doi:10.1159/000079854.
Johnson MD, Mitchell AR, Troup EC, Bhowmick DA, Wait SD, Aulino J, Zhuang Z, Weil RJ. Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene. Pediatr Neurosurg. 2004;40(3):124–127.
Journal cover image

Published In

Pediatr Neurosurg

DOI

ISSN

1016-2291

Publication Date

2004

Volume

40

Issue

3

Start / End Page

124 / 127

Location

Switzerland

Related Subject Headings

  • Von Hippel-Lindau Tumor Suppressor Protein
  • Ubiquitin-Protein Ligases
  • Tumor Suppressor Proteins
  • Supratentorial Neoplasms
  • Neurology & Neurosurgery
  • Male
  • Infant, Newborn
  • Humans
  • Hemangioblastoma
  • 3213 Paediatrics