Malignant intracranial germinoma in smith-lemli-opitz syndrome: Cholesterol homeostasis possibly connecting morphogenesis and cancer development

Hana Oslejskova, Vera Horinova, Jaroslav Sterba, Zdenek Pavelka, Dusica Babovic-Vuksanovic, Lenka Dubska, Dalibor Valik

Research output: Contribution to journalArticle

6 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)689-691
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume30
Issue number9
DOIs
StatePublished - Sep 1 2008

Keywords

  • CNS tumors
  • Cancer genetics
  • Germ cell tumors
  • Gorlin syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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