Segmental Spinal Dysgenesis–â€œRedefinedâ€

Chellathurai, Amarnath; Ayyamperumal, Balaji; Thirumaran, Rajakumari; Kathirvelu, Gopinathan; Muthaiyan, Priya; Kannappan, Sivakumar

Abstract

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.