Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review

非典型尾部退化综合征伴腰椎发育不全和骶骨存在——病例报告及文献综述

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Abstract

CONTEXT: Caudal regression syndrome is a rare disorder, not well described in the literature. FINDINGS: Authors treated two patients with congenital absence of thoracolumbar vertebrae and lower limbs paraplegia. Patients had hypoplasia of the lower trunk and extremities with motion between upper and lower torso. Imaging showed caudal spine agenesis, but cleft sacrum was present. Due to severe kyphotic deformity and spinal instability, deformity correction and posterior fusion was performed at the age 6 and 8. Finally, fusion was achieved in one case and stable but non-fusion kyphotic posture was observed in second. CONCLUSION: surgery in caudal regression syndrome is challenging and bears high risk of complications.

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