Skip Navigation LinksHome > September 2008 - Volume 30 - Issue 9 > Malignant Intracranial Germinoma in Smith-Lemli-Opitz Syndro...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e318180bbde
Clinical and Laboratory Observations

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

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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.

© 2008 Lippincott Williams & Wilkins, Inc.

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