Congenital cystic hemangioblastomas of the cerebral hemisphere in a neonate without alteration in the VHL gene.
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.
Johnson
Mahlon D
MD
Department of Pathology, Vanderbilt University School of Medicine, Nashville, Tenn., USA.
Mitchell
Alex R
AR
Troup
E Christopher
EC
Bhowmick
Deb A
DA
Wait
Scott D
SD
Aulino
Joseph
J
Zhuang
Zhengping
Z
Weil
Robert J
RJ
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
D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human