March 1997--4 year old girl with ring chromosome 22 and brain tumor

Brain Pathol. 1997 Jul;7(3):1027-8. doi: 10.1111/j.1750-3639.1997.tb00902.x.


A four year old Caucasian girl with a constitutional ring chromosome 22 abnormality and developmental delay presented with increasing ataxia and a six week history of non-specific symptoms. Imaging studies demonstrated a large third ventricular tumor with apparent involvement of the septum. Microscopic and immunohistochemical studies demonstrated an atypical teratoid/rhabdoid tumor. This tumor is compared and contrasted to peripheral malignant rhabdoid tumors and central primitive neuroectodermal tumors. The role of a putative tumor suppressor gene on the long arm of chromosome 22 in the pathogenesis of these tumors is also discussed.

Publication types

  • Case Reports

MeSH terms

  • Brain Neoplasms / genetics*
  • Child, Preschool
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • Ring Chromosomes*