Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.
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.
Oslejskova
Hana
H
Department of Pediatric Neurology , University Hospital Brno, Brno, Czech Republic.
Horinova
Vera
V
Sterba
Jaroslav
J
Pavelka
Zdenek
Z
Babovic-Vuksanovic
Dusica
D
Dubska
Lenka
L
Valik
Dalibor
D
D000293:Adolescent; D001932:Brain Neoplasms / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D002784:Cholesterol / Q000378:metabolism*; D003684:Dehydrocholesterols / Q000378:metabolism; D018450:Disease Progression; D017809:Fatal Outcome; D018237:Germinoma / Q000209:etiology*; D053823:Hedgehog Proteins / Q000378:metabolism; D006706:Homeostasis; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009024:Morphogenesis / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000473:pathology*
D003684:Dehydrocholesterols; D053823:Hedgehog Proteins; C509239:SHH protein, human; D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase