Rathke's cleft cysts in twins with type 2C von Hippel-Lindau disease

J Neurosurg Pediatr. 2014 Aug;14(2):145-8. doi: 10.3171/2014.5.PEDS13541. Epub 2014 May 30.

Abstract

Von Hippel-Lindau disease (VHLD) is characterized by a spectrum of benign and malignant tumors in the CNS and visceral organs. Rathke's cleft cysts are benign, nonneoplastic sellar lesions that are often asymptomatic. The authors report the case of twin sisters with VHLD Type 2C with radiographically similar sellar lesions. One twin required surgery for progressive visual loss. Pathological examination of resected tissue demonstrated Rathke's cleft cyst.

Keywords: Rathke's cleft cyst; VHLD = von Hippel-Lindau disease; oncology; pVHL = von Hippel-Lindau protein; twin; von Hippel-Lindau disease.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenal Gland Neoplasms / diagnosis
  • Adrenal Gland Neoplasms / surgery
  • Adrenalectomy
  • Central Nervous System Cysts / diagnosis*
  • Central Nervous System Cysts / genetics
  • Central Nervous System Cysts / pathology
  • Central Nervous System Cysts / surgery*
  • Child
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Pheochromocytoma / diagnosis
  • Pheochromocytoma / surgery
  • Pituitary Neoplasms / diagnosis*
  • Pituitary Neoplasms / genetics
  • Pituitary Neoplasms / pathology
  • Pituitary Neoplasms / surgery*
  • Sella Turcica
  • Twins
  • Vision Disorders / etiology*
  • von Hippel-Lindau Disease / complications*
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / pathology