Craniopharyngiomas in two consanguineous siblings: case report

Neurosurgery. 1997 Nov;41(5):1185-7. doi: 10.1097/00006123-199711000-00031.

Abstract

Objective and importance: We describe a double case of craniopharyngioma in consanguineous siblings, suggesting the disease is sometimes genetic.

Clinical presentation: Two typical adamantine craniopharyngiomas were observed in two consanguineous siblings. The brother and the sister, whose parents were first cousins, developed the tumors at the same age.

Intervention: The male patient was operated on using a frontopterional approach, and the tumor was completely resected. The patient remained free from recurrence 9 years after surgery. His older sister died after tumor removal was attempted at another institution.

Conclusion: To our knowledge, such a connection has never been reported in the literature. It suggests that craniopharyngioma, which is usually sporadic, can also be transmitted in an autosomal recessive manner.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Consanguinity
  • Craniopharyngioma / diagnosis
  • Craniopharyngioma / genetics*
  • Craniopharyngioma / pathology
  • Craniopharyngioma / surgery*
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Nuclear Family
  • Pedigree
  • Pituitary Neoplasms / diagnosis
  • Pituitary Neoplasms / genetics*
  • Pituitary Neoplasms / pathology
  • Pituitary Neoplasms / surgery*
  • Probability
  • Risk Assessment