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Updated: Jun 15 2021

Sacral Agenesis

  • summary
    • Sacral Agenesis is a congenital condition associated with caudal regression syndrome characterized by the partial or complete absence of sacrum and lower lumbar spine.
    • Diagnosis is made clinically with prominence of the last vertebral segment and postural abnormalities.
    • Treatment involves a multidisciplinary approach to address neurological, genitoturinary, and orthopedic manifestations
  • Epidemiology
    • Incidence
      • 1 - 2.5 per 100,000 newborns
    • Risk factors
      • highly associated with maternal diabetes
  • Etiology
    • Pathophysiology
      • neurologic involvement
        • motor deficit corresponds to level
        • protective sensation is usually intact
          • important in that there is a lesser rate of decubiti ulcers
          • this differentiate from myelodysplasia
    • Associated conditions
      • caudal regression syndrome
        • gastrointestinal disorders (imperforate anus)
        • genitourinary disorders
        • cardiovascular disorders
        • lower extremity deformities
        • progressive kyphosis
  • Classification
      • Renshaw Classification
      • Type I
      • Partial or total unilateral sacral agenesis
      • Type II
      • Partial sacral agenesis with a bilaterally symmetrical defect
      • Type III
      • Ilium articulating with the sides of the lowest vertebra present
      • Type IV
      • Caudal endplate of vertebra resting above fused ilia or an iliac amphiarthrosis
  • Presentation
    • Symptoms
      • clinical presentation is based on the severity of disease
    • Physical exam
      • inspection
        • prominence of the last vertebral segment
          • classic sign of buttock dimping
        • postural abnormalities (e.g. sitting buddha)
        • limb and joint contractures
          • extended knees, flexed hips, and equinovarus feet.
      • motion
        • flexion and extension may occur at the junction of the spine rather than hips
      • neurovascular examination
        • motor and sensory deficits are common in severe disease
  • Treatment
    • Nonoperative
      • physical therapy
        • indications
          • Renshaw type 1/2
        • outcomes
          • most become community ambulators
          • foot and knee deformities to be addressed
    • Operative
      • spinal stabilization procedures
        • indications
          • Renshaw type 3/4 with progressive kyphosis or scoliosis
        • outcomes
          • progressive kyphosis and/or scoliosis may develop between the spine and pelvis
          • child must use his or her hands to support the trunk, and therefore is unable to use his or her hands for other activities
      • limb amputation
        • indication
          • non-fuctional lower limb deformities
        • outcomes
          • better mobility
  • Complications
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