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Caudal Regression
Usha D. Nagaraj, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Caudal agenesis, lumbosacral hypogenesis
            • Definitions

              • Caudal regression: Agenesis/dysgenesis of portion of caudal spine, frequently in conjunction with spinal cord malformations
              • Caudal regression syndrome (CRS): Spectrum of anomalies including lumbosacral agenesis, urogenital anomalies, & anorectal malformations

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              • Gross Pathologic & Surgical Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Balioğlu MB et al: Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. Childs Nerv Syst. ePub, 2016
                                            2. Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
                                            3. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                            4. Jeelani Y et al: Closed neural tube defects in children with caudal regression. Childs Nerv Syst. 29(9):1451-7, 2013
                                            5. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                            6. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                            7. Barkovich AJ, et al: Pediatric Neuroimaging: fifth edition. Lippincott Williams & Wilkins. Philadelphia, PA. 887-8, 2012
                                            8. Torre M et al: Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. J Pediatr Surg. 43(3):530-3, 2008
                                            9. Tortori-Donati P et al: Pediatric Neuroradiology. Springer-Verlag. Berlin, Germany. pp. 1596-1601, 2005
                                            10. Das BB et al: Caudal regression syndrome versus sirenomelia: a case report. J Perinatol. 22(2):168-70, 2002
                                            11. Nievelstein RA et al: Magnetic resonance imaging in children with anorectal malformations: embryologic implications. J Pediatr Surg. 37(8):1138-45, 2002
                                            12. Heij HA et al: Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations. Arch Dis Child. 74(5):441-4, 1996
                                            13. Nievelstein RA et al: MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol. 15(6):1021-9, 1994
                                            14. Pang D: Sacral agenesis and caudal spinal cord malformations. Neurosurgery. 32(5):755-78; discussion 778-9, 1993
                                            15. Barkovich AJ et al: The wedge-shaped cord terminus: a radiographic sign of caudal regression. AJNR Am J Neuroradiol. 10(6):1223-31, 1989
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Synonyms

                                                        • Caudal agenesis, lumbosacral hypogenesis
                                                      • Definitions

                                                        • Caudal regression: Agenesis/dysgenesis of portion of caudal spine, frequently in conjunction with spinal cord malformations
                                                        • Caudal regression syndrome (CRS): Spectrum of anomalies including lumbosacral agenesis, urogenital anomalies, & anorectal malformations

                                                      IMAGING

                                                      • General Features

                                                        • Radiographic Findings

                                                          • CT Findings

                                                            • MR Findings

                                                              • Ultrasonographic Findings

                                                                • Imaging Recommendations

                                                                  DIFFERENTIAL DIAGNOSIS

                                                                    PATHOLOGY

                                                                    • General Features

                                                                      • Staging, Grading, & Classification

                                                                        • Gross Pathologic & Surgical Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Balioğlu MB et al: Sacral agenesis: evaluation of accompanying pathologies in 38 cases, with analysis of long-term outcomes. Childs Nerv Syst. ePub, 2016
                                                                                      2. Isik Kaygusuz E et al: Sirenomelia: a review of embryogenic theories and discussion of the differences from caudal regression syndrome. J Matern Fetal Neonatal Med. 29(6):949-53, 2016
                                                                                      3. Beaumont C et al: Prenatal imaging of caudal regression syndrome with postnatal correlation: novel insights. Fetal Diagn Ther. 34(2):131-2, 2013
                                                                                      4. Jeelani Y et al: Closed neural tube defects in children with caudal regression. Childs Nerv Syst. 29(9):1451-7, 2013
                                                                                      5. Palacios-Marqués A et al: Prenatal diagnosis of caudal dysplasia sequence associated with undiagnosed type I diabetes. BMJ Case Rep. 2013, 2013
                                                                                      6. Sharma P et al: Clinico-radiologic findings in group II caudal regression syndrome. J Clin Imaging Sci. 3:26, 2013
                                                                                      7. Barkovich AJ, et al: Pediatric Neuroimaging: fifth edition. Lippincott Williams & Wilkins. Philadelphia, PA. 887-8, 2012
                                                                                      8. Torre M et al: Long-term urologic outcome in patients with caudal regression syndrome, compared with meningomyelocele and spinal cord lipoma. J Pediatr Surg. 43(3):530-3, 2008
                                                                                      9. Tortori-Donati P et al: Pediatric Neuroradiology. Springer-Verlag. Berlin, Germany. pp. 1596-1601, 2005
                                                                                      10. Das BB et al: Caudal regression syndrome versus sirenomelia: a case report. J Perinatol. 22(2):168-70, 2002
                                                                                      11. Nievelstein RA et al: Magnetic resonance imaging in children with anorectal malformations: embryologic implications. J Pediatr Surg. 37(8):1138-45, 2002
                                                                                      12. Heij HA et al: Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations. Arch Dis Child. 74(5):441-4, 1996
                                                                                      13. Nievelstein RA et al: MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol. 15(6):1021-9, 1994
                                                                                      14. Pang D: Sacral agenesis and caudal spinal cord malformations. Neurosurgery. 32(5):755-78; discussion 778-9, 1993
                                                                                      15. Barkovich AJ et al: The wedge-shaped cord terminus: a radiographic sign of caudal regression. AJNR Am J Neuroradiol. 10(6):1223-31, 1989