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.
*Department of Pediatric Neurology
‡Department of Pediatric Oncology, University Hospital Brno
∥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: firstname.lastname@example.org).
Received for publication January 18, 2008; accepted April 14, 2008