title: Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery.
abstract: Segmental spinal dysgenesis (SSD) is a rare congenital spinal abnormality characterized by segmental dysgenesis or agenesis of the thoracolumbar or lumbar spine, congenital kyphosis, and abnormal configuration of the underlying spinal cord. A unique feature of SSD is that the vertebrae are present above and below the defect, and there is often a lower cord segment in the caudal spinal canal. We report a fetal MRI case of SSD with postmortem and neuropathological correlations. Our report confirms already published findings including the presence of a neurenteric cyst but is the first to document anterior spinal artery segmental agenesis in SSD.
authors.affiliation: Department of Medical Imaging, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada. melissavaldezq@gmail.com.
authors.forename: Melissa
authors.initials: M
authors.lastname: Valdez Quintana
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
authors.forename: Jean
authors.initials: J
authors.lastname: Michaud
authors.affiliation: Department of Obstetrics, Gynecology and Newborn Care, The Ottawa Hospital, University of Ottawa, 501 Smyth Road, Ottawa, Ontario, K1H 8L6, Canada.
authors.forename: Darine
authors.initials: D
authors.lastname: El-Chaar
authors.affiliation: Department of Pathology and Laboratory Medicine, Children's Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
authors.forename: Dina
authors.initials: D
authors.lastname: El Demellawy
authors.affiliation: Department of Genetics, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
authors.forename: Sarah M
authors.initials: SM
authors.lastname: Nikkel
authors.affiliation: Department of Medical Imaging, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
authors.forename: Elka
authors.initials: E
authors.lastname: Miller
mesh_terms: D000328:Adult; D003933:Diagnosis; D005260:Female; D006801:Humans; D007738:Kyphosis / Q000150:complications*; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013122:Spinal Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D013131:Spine / Q000002:abnormalities*; D014711:Vertebral Artery / Q000002:abnormalities*
keywords: Anterior spinal artery; Congenital spinal abnormality; Fetal magnetic resonance imaging; Neuropathology; Segmental spinal dysgenesis