A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

Brain Dev. 2016 Feb;38(2):257-60. doi: 10.1016/j.braindev.2015.07.005. Epub 2015 Sep 11.

Abstract

We described clinical course of a 24-year-old woman with 3p deletion syndrome associated with cerebellar hemangioblastoma at the age of 16 years old. She presented dysmorphic facial features, growth retardation and severe psychomotor retardation associated with 3p deletion syndrome. We identified de novo 3p deletion encompassing p25 by using array-based comparative genomic hybridization, where causative gene of von Hippel-Lindau (VHL) disease located. Surgical therapy for cerebellar hemangioblastoma was performed, and histological examination was consistent in cerebellar hemangioblastoma. She showed no other tumors associated VHL disease till 24 years old. This is the first case report of a patient with 3p deletion syndrome whose cerebellar hemangioblastoma may be associated with VHL disease. Repeat imaging studies were recommended for the patients with 3p deletion syndrome.

Keywords: 3p deletion syndrome; Cerebellar hemangioblastoma; Hemangioblastoma; von Hippel–Lindau disease.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Neoplasms / genetics*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 3 / genetics
  • Comparative Genomic Hybridization
  • Female
  • Hemangioblastoma / genetics*
  • Humans
  • Young Adult
  • von Hippel-Lindau Disease

Supplementary concepts

  • Chromosome 3, monosomy 3p