Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development

J Pediatr Hematol Oncol. 2008 Sep;30(9):689-91. doi: 10.1097/MPH.0b013e318180bbde.

Abstract

Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. To date, predisposition for tumor development is not considered a feature associated with this syndrome. Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Brain Neoplasms / etiology*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology
  • Cholesterol / metabolism*
  • Dehydrocholesterols / metabolism
  • Disease Progression
  • Fatal Outcome
  • Germinoma / etiology*
  • Hedgehog Proteins / metabolism
  • Homeostasis
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Morphogenesis / genetics
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Smith-Lemli-Opitz Syndrome / genetics
  • Smith-Lemli-Opitz Syndrome / pathology*

Substances

  • Dehydrocholesterols
  • Hedgehog Proteins
  • SHH protein, human
  • Cholesterol
  • Oxidoreductases Acting on CH-CH Group Donors
  • 7-dehydrocholesterol reductase