Segmental spinal dysgenesis

• Type of Material: Article
• Authors: Emily Knafl, University of Queensland; Neil Lall, Emory University; Miles Love, Ochsner Health System; Cuong Bui, University of Queensland; Andrew J. Steven, Ochsner Health System
• Language: English
• Date: 2020-09-01
• Publisher: Ochsner Clinic Foundation
• Publication Version: Final Published Version
• Copyright Statement: ©2020 by the author(s)
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.31486/toj.19.0094
• Title of Journal or Parent Work: Ochsner Journal
• Volume: 20
• Issue: 3
• Start Page: 244
• End Page: 247
• Research Categories: Health Sciences, Medicine and Surgery; Biology, Genetics; Biology, Anatomy

Abstract

Segmental spinal dysgenesis (SSD) is a rare congenital deformity that occurs when portions of the spine and spinal cord fail to develop properly.1 SSD was originally defined as agenesis or dysgenesis localized to the lumbar or thoracolumbar regions of the spine,2 but the definition was later expanded to congenital spinal dysraphism that must include (1) paraparesis/paraplegia, including lower limb aberrations; (2) more than one segment vertebral abnormality which may include kyphosis or kyphoscoliosis; (3) the absence or malformation of a portion of the spinal cord, along with associated nerve roots anywhere from the cervical spine to the sacrum; and (4) the presence of spinal cord distal to the affected region of cord.3 Dysraphic conditions such as SSD have been attributed to a mishap in the development of the early neural tube that results in a nonclosure.2,4,5 The diversity of accompanying malformations in other organs is thought to be the result of a singular event in embryogenesis that simultaneously disrupts all 3 embryonic germ layers.4,5 Gastrulation is hypothesized to be the pivotal moment when the germ layers are in enough proximity to allow the derangement to occur.2,4,5 During this phase, tissues migrate to form the trilaminar disk with the ectoderm, mesoderm, and endoderm superimposed together, and these layers initiate the early development of the neural tube.2,4,5 Malformations of other organs that are often associated with spinal dysraphism include hindgut duplication, horseshoe kidney, dextrocardia, and imperforate anus.4,5 We describe a rare case of SSD and discuss features of imaging, including aspects of prenatal imaging.