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Malignant Intracranial Germinoma in Smith-Lemli-Opitz Syndrome: Cholesterol Homeostasis Possibly Connecting Morphogenesis and Cancer Development

Oslejskova, Hana MD, PhD*; Horinova, Vera MD; Sterba, Jaroslav MD, PhD; Pavelka, Zdenek MD; Babovic-Vuksanovic, Dusica MD§; Dubska, Lenka PhD; Valik, Dalibor MD, PhD

Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e318180bbde
Clinical and Laboratory Observations
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.

Author Information

*Department of Pediatric Neurology

Department of Pediatric Oncology, University Hospital Brno

Sanatorium Helios

Department of Laboratory Medicine, Masaryk Memorial Cancer Institute, Brno, Czech Republic

§Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, MN

Reprints: Dalibor Valik, MD, PhD, Department of Laboratory Medicine, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno 656 53, Czech Republic (e-mail: valik@mou.cz).

Received for publication January 18, 2008; accepted April 14, 2008

© 2008 Lippincott Williams & Wilkins, Inc.