Abstract
The segmental spinal dysgenesis (SSD) is a rare and complex spinal dysraphism. We document a case of a type II SSD in a full-term female neonate with her clinical symptoms, imaging characteristics and intraoperative findings, depicting the rare association with a pure meningocele and its primary management. In addition, we performed a literature review, with special emphasis on the embryological and radiological classification, aiming to a proper diagnostic and therapeutic approach of this entity.
Highlights
We document a case of a type II segmental spinal dysgenesis (SSD) in a full-term female neonate with her clinical symptoms, imaging characteristics and intraoperative findings, depicting the rare association with a pure meningocele and its primary management
Segmental spinal dysgenesis is a rare and complex entity characterized by a dysgenesis of the thoracolumbar or lumbar spinal segment, usually associated with congenital scoliosis, focal abnormalities of the spinal cord and the spinal nerves
Magnetic resonance imaging (MRI) images of the neuroaxis were performed, identifying an abrupt interruption of the thoracolumbar spine with a dysmorphic block vertebrae with spondyloptosis, posterior closure defects of several vertebral segments and significant spinal canal stenosis associated with spinal cord narrowing at the apex of the retrolisthesis, with bulky and low lying cord at the lumbar segments
Summary
To document the case of a type II segmental spinal dysgenesis and to provide a literature review that describes the key elements of this rare entity. Background data and methods: The segmental spinal dysgenesis (SSD) is a rare and complex spinal dysraphism. We document a case of a type II SSD in a full-term female neonate with her clinical symptoms, imaging characteristics and intraoperative findings, depicting the rare association with a pure meningocele and its primary management. We performed a literature review, with special emphasis on the embryological and radiological classification, aiming to a proper diagnostic and therapeutic approach of this entity
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