Artigo Revisado por pares

Caudal Regression Syndrome (Spinal Thoraco-lumbo-sacro-coccygeal Agenesis)

2020; Elsevier BV; Volume: 142; Linguagem: Inglês

10.1016/j.wneu.2020.07.055

ISSN

1878-8769

Autores

Ali Akhaddar,

Tópico(s)

Pelvic floor disorders treatments

Resumo

This is a case report of a 2-year-old male who presented with walking disability and sphincter incontinence since birth. His mother has diabetes mellitus. The patient had a normal mental function, and his lower extremities were hypoplastic and akinetic. Spinal neuroimaging investigations revealed agenesis of the spinal column below T9 vertebral level with abrupt termination of the spinal cord at the T6 vertebral level. With this severe caudal regression syndrome (CauReS), cardiac, anorectal, urologic, and orthopedic consultations were made looking for other potential associated malformations. Unfortunately, no neurosurgical indication was suggested. CauReS is a rare congenital disorder in which there is abnormal fetal development of the lower spine and hypoplasia of the lower extremities. Neurosurgically, there are no clear guidelines to follow for patients with CauReS. Sometimes, surgical spinal cord untethering may be indicated in some selected patients to improve neurologic function.

Referência(s)
Altmetric
PlumX