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[Caudal regression syndrome]

M Hortelano1, J Palencia, J García

  • 1Servicio de Pediatría, Hospital General de Segovia, España.

Revista De Neurologia
|November 6, 1998
PubMed
Summary
This summary is machine-generated.

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Regression caudal syndrome, a spectrum of malformations, can cause significant neurological and orthopedic issues. Early lumbosacral evaluation is crucial for diagnosing vertebral anomalies in children with gait or sphincter control problems.

Area of Science:

  • Pediatric neurology
  • Skeletal dysplasias
  • Congenital malformations

Background:

  • Regression caudal syndrome encompasses a range of malformations, from asymptomatic coccygeal agenesis to severe sacrococcygeal agenesis with neurological deficits.
  • Associated malformations in other organs and systems can occur.

Observation:

  • A 4-year-old presented with gait abnormalities, daytime/nocturnal enuresis, urinary incontinence, constipation, encopresis, and rectal prolapse.
  • Imaging revealed partial agenesis of the sacrum and coccyx, pelvic stenosis, and coxa vara.

Findings:

  • Lumbosacral X-rays showed four lumbar vertebrae, a dysplastic sacrum, and absent coccyx.
  • CT scans indicated sacral hypoplasy and pelvic stenosis.
  • MRI confirmed agenesis of the sacrum and coccyx vertebrae.

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Implications:

  • Sacrococcygeal agenesis presents with diverse clinical manifestations, including neuromuscular and orthopedic alterations.
  • Diagnostic imaging (X-rays, CT, MRI) is essential for diagnosis and identifying associated spinal cord anomalies.
  • Clinical evaluation of gait disturbances and sphincter control issues should include assessment for lumbosacral vertebral anomalies.