title: Closed spinal dysraphism: a review on diagnosis and treatment in infancy.
abstract: This article reviews the clinical presentation, pathophysiology, diagnostic strategies, and therapeutic management of closed spinal dysraphism in infancy. Four groups of symptoms are distinguished: (1) cutaneous abnormalities, (2) lower motor neuron dysfunction due to congenital spinal and nerve root abnormalities, (3) upper motor neuron dysfunction due to tethering of the spinal cord, and (4) symptoms caused by associated malformations. Guidelines are proposed concerning timing and type of diagnostic investigations in infancy. This essentially encompasses a neurological assessment, including spinal ultrasonography and nuclear magnetic resonance imaging of the spine and the brain, and a urological assessment, including ultrasonography of kidneys and bladder, cystourethrography and a urodynamic study. As to the tethered cord syndrome it is concluded that first, already in infancy, a progressive neurological dysfunction can be detected; second, surgical untethering should be performed only upon appearance of upper motor neuron signs or upon progression of lower motor neuron signs. Despite its frequently asymptomatic course, the diagnosis of a congenital lumbosacral lipoma, and in the more general sense, of a closed spinal dysraphism, implies a periodic, multidisciplinary follow-up for life.
authors.affiliation: Department of Paediatrics-Child Neurology, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: L
authors.initials: L
authors.lastname: Cornette
authors.forename: C
authors.initials: C
authors.lastname: Verpoorten
authors.forename: L
authors.initials: L
authors.lastname: Lagae
authors.forename: C
authors.initials: C
authors.lastname: Plets
authors.forename: F
authors.initials: F
authors.lastname: Van Calenbergh
authors.forename: P
authors.initials: P
authors.lastname: Casaer
mesh_terms: D006801:Humans; D006869:Hydronephrosis / Q000000981:diagnostic imaging; D007223:Infant; D007231:Infant, Newborn; D007677:Kidney Function Tests; D008067:Lipoma / Q000151:congenital / Q000473:pathology / Q000601:surgery; D008279:Magnetic Resonance Imaging; D016472:Motor Neuron Disease / Q000209:etiology / Q000503:physiopathology; D009436:Neural Tube Defects / Q000175:diagnosis / Q000601:surgery; D016136:Spina Bifida Occulta / Q000150:complications / Q000175:diagnosis* / Q000601:surgery*; D013116:Spinal Cord / Q000473:pathology*; D013120:Spinal Cord Neoplasms / Q000151:congenital / Q000601:surgery; D014463:Ultrasonography; D001745:Urinary Bladder Diseases / Q000175:diagnosis / Q000503:physiopathology