title: Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene.
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.
authors.affiliation: Department of Pathology, Vanderbilt University School of Medicine, Nashville, Tenn., USA.
authors.forename: Mahlon D
authors.initials: MD
authors.lastname: Johnson
authors.forename: Alex R
authors.initials: AR
authors.lastname: Mitchell
authors.forename: E Christopher
authors.initials: EC
authors.lastname: Troup
authors.forename: Deb A
authors.initials: DA
authors.lastname: Bhowmick
authors.forename: Scott D
authors.initials: SD
authors.lastname: Wait
authors.forename: Joseph
authors.initials: J
authors.lastname: Aulino
authors.forename: Zhengping
authors.initials: Z
authors.lastname: Zhuang
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Weil
mesh_terms: D018325:Hemangioblastoma / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015173:Supratentorial Neoplasms / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*; D051794:Von Hippel-Lindau Tumor Suppressor Protein
chemical_list: D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human