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Updated: Apr 1, 2026

Spinal Hernia Repair and Cauda Equina Repositioning After Lumbar Decompression under Three-Dimensional Microscopy: A Case Report and Literature Review
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[Caudal regression sequence: clinical-radiological case].

Juan Zepeda T1, Mirna García M2, Jorge Morales S3

  • 1Programa de Especialización en Pediatría, Universidad de Chile, Hospital San Borja Arriarán, Santiago, Chile.

Revista Chilena De Pediatria
|October 13, 2015
PubMed
Summary

Caudal regression syndrome, a rare congenital condition, presents with diverse physical abnormalities. Maternal diabetes and HBLX9 gene mutations are potential causes, with metabolic control being key for prevention.

Keywords:
Caudal regression syndromeCongenital malformationDiabetes mellitusGen HBLX9HBLX9 geneMalformación congénitaSíndrome de regresión caudal

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Area of Science:

  • Pediatric Genetics
  • Congenital Malformations
  • Developmental Biology

Background:

  • Caudal regression syndrome (CRS) is a rare congenital anomaly with varied clinical manifestations.
  • It involves caudal musculoskeletal deficits and can co-occur with neurological, renal, and genitourinary anomalies.

Observation:

  • The etiology of CRS is not fully understood but is linked to maternal diabetes and HBLX9 gene mutations.
  • Diagnosis relies on prenatal ultrasound, physical examination, and postnatal imaging (radiography, MRI).

Findings:

  • A case of CRS in a male neonate born to a mother with poorly controlled pregestational diabetes is presented.
  • Prenatal ultrasound indicated malformations of the lumbar spine, iliac bones, and lower limbs, confirmed postnatally via X-ray and MRI.

Implications:

  • Multidisciplinary management is crucial for patients with Caudal Regression Syndrome.
  • Optimal metabolic control of gestational diabetes is the most effective preventive strategy identified.