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

Pediatric Neurosurgery
Mahlon D JohnsonRobert J Weil

Abstract

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.

Citations

Mar 24, 2006·Pathology Oncology Research : POR·Gábor SobelFerenc Bánhidy
Mar 15, 2006·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Ismail H Tekkök, Aydin Sav
Mar 11, 2011·Pediatric Neurosurgery·Wuilker Knoner Campos, Marcelo Neves Linhares
Dec 25, 2007·Journal of Neurosurgery·Hakan KarabagliBurak Durmaz
Feb 18, 2011·Journal of Child Neurology·Brian V NahedEdward R Smith

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