title: Spinal hamartoma with severe kyphoscoliosis--a rare case of spinal mass in a fetus.
abstract: Spinal hamartomas are rare lesions consisting of disorganized ecto- and mesodermal tissues of the spinal region. While postnatal identification of spinal hamartomas has been reported, a literature search did not reveal any published reports of prenatal identification of spinal hamartomas. Here we report a 46,XX fetus who presented at 20 weeks' gestation with a lower thoracic and lumbar kyphoscoliosis, suspected spina bifida, and amniotic fluid alpha-fetoprotein (AFP) levels within the normal range. Interestingly, autopsy at 22 weeks revealed a lumbosacral spinal hamartoma with kyphoscoliosis. We discuss the differential diagnosis for such spinal masses which includes congenital tumors and spinal dysraphism. This case illustrates that spinal hamartomas should be considered as part of the prenatal differential diagnosis of spinal dysraphisms, especially in the presence of normal AFP levels.
authors.affiliation: Department of Medical Genetics, SMBD Jewish General Hospital, McGill University, Montreal, Que., Canada.
authors.forename: Danna
authors.initials: D
authors.lastname: Loder
authors.forename: Maria
authors.initials: M
authors.lastname: Lalous
authors.forename: Louise
authors.initials: L
authors.lastname: Rochon
authors.forename: Steffen
authors.initials: S
authors.lastname: Albrecht
authors.forename: Lucia
authors.initials: L
authors.lastname: Carpineta
authors.forename: Josée
authors.initials: J
authors.lastname: Lefebvre
authors.forename: Jennifer
authors.initials: J
authors.lastname: Fitzpatrick
authors.forename: Louise
authors.initials: L
authors.lastname: Miner
authors.forename: Marc
authors.initials: M
authors.lastname: Tischkowitz
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D005333:Fetus / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D005865:Gestational Age; D006222:Hamartoma / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D007738:Kyphosis / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging*; D013122:Spinal Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D016216:Ultrasonography, Prenatal