Ataxia-telangiectasia complicated by craniopharyngioma--a new observation

Pediatr Neurol. 2006 Oct;35(4):287-8. doi: 10.1016/j.pediatrneurol.2006.05.011.

Abstract

Ataxia-telangiectasia is a rare autosomal recessive neurodegenerative disorder with high incidence of malignancy including leukemias, lymphomas, and solid tumors. Central nervous system tumors in ataxia telangiectasia include medulloblastomas and gliomas. We describe a 13-year-old girl with ataxia telangiectasia who developed craniopharyngioma and non-Hodgkin's lymphoma. To our knowledge, this is the first case of ataxia telangiectasia complicated by craniopharyngioma in the English literature.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Ataxia Telangiectasia / complications*
  • Ataxia Telangiectasia / diagnosis
  • Ataxia Telangiectasia / genetics
  • Brain / pathology
  • Consanguinity
  • Craniopharyngioma / complications*
  • Craniopharyngioma / diagnosis
  • Craniopharyngioma / genetics
  • Craniopharyngioma / surgery
  • Fatal Outcome
  • Female
  • Humans
  • Hypophysectomy
  • Lymphoma, Non-Hodgkin / complications
  • Lymphoma, Non-Hodgkin / diagnosis
  • Lymphoma, Non-Hodgkin / genetics
  • Magnetic Resonance Imaging
  • Neoplasms, Multiple Primary / complications
  • Neoplasms, Multiple Primary / diagnosis
  • Neoplasms, Multiple Primary / genetics
  • Neurologic Examination
  • Pituitary Neoplasms / complications*
  • Pituitary Neoplasms / diagnosis
  • Pituitary Neoplasms / genetics
  • Pituitary Neoplasms / surgery