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

Warning

This publication doesn't include Faculty of Arts. It includes Faculty of Medicine. Official publication website can be found on muni.cz.
Authors

OŠLEJŠKOVÁ Hana HOŘÍNOVÁ Věra ŠTĚRBA Jaroslav PAVELKA Zdeněk BABOVIC - VUKSANOVIC D. DUBSKÁ Lenka VALÍK Dalibor

Year of publication 2008
Type Article in Periodical
Magazine / Source Journal Pediatric Hematology Oncology
MU Faculty or unit

Faculty of Medicine

Citation
Field Oncology and hematology
Keywords Hedcehog Biosynhtesis Tumours MRI
Description 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.
Related projects:

You are running an old browser version. We recommend updating your browser to its latest version.