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Segmental Spinal Dysgenesis–“Redefined”
Amarnath Chellathurai,,Balaji Ayyamperumal,Rajakumari Thirumaran,Gopinathan Kathirvelu,Priya Muthaiyan,Sivakumar Kannappan 대한척추외과학회 2019 Asian Spine Journal Vol.13 No.2
Study Design: Retrospective single institutional observational study. Purpose: Segmental spinal dysgenesis (SSD), a complex spinal dysraphic state caused by notochord malformation disorders, is named after its morphological presentation where a spine segment is dysgenetic, malformed or absent. This study’s objective was to examine and reassess SSD imaging findings and correlate them with an embryological explanation. Overview of Literature: Scott and his colleagues defined SSD as segmental agenesis or dysgenesis of the lumbar or thoracolumbar vertebrae and underlying spinal cord. Tortori-Donati and his colleagues defined it as a morphologic continuum ranging from hypoplasia to an absent spinal cord segment. Methods: Fifteen children, whose imaging findings and clinical features were consistent with SSD, were included in the study. Magnetic resonance imaging (MRI) was performed per institutional spine protocol. Results: Five children (33.3%) presented with a high-ending bulbous cord with no caudal segment, six (40%) presented with a dorsal or lumbar segmental dysgenetic cord with a low-lying, bulky caudal cord but without significant spinal canal narrowing, and four (26.6%) presented with segmental caudal dysgenesis with severe kyphoscoliosis, gibbus deformity, and spinal canal narrowing with a normal distal segment (normal or low-lying). Conclusions: SSD is a complex spinal anomaly in children requiring clinical-radiological assessment followed by multidisciplinary management based on the extent and severity of the dysgenetic cord and the type of SSD. MRI plays a crucial role in both diagnosing and classifying SSD prior to surgical treatment to prevent further impairment.