Updated: 6/15/2021

Sacral Agenesis

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  • 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
Questions (3)

(SAE07PE.59) A full-term newborn has webbing at the knees, rigid clubfeet, a Buddha-like posture of the lower extremities, and no voluntary or involuntary muscle action at and below the knees. Radiographs of the spine and pelvis reveal an absence of the lumbar spine and sacrum. What maternal condition is associated with this diagnosis?

QID: 6119
1

Alcoholism

24%

(56/229)

2

Drug abuse

15%

(34/229)

3

Down syndrome

6%

(13/229)

4

Diabetes mellitus

53%

(122/229)

5

Idiopathic scoliosis

1%

(3/229)

N/A E

Select Answer to see Preferred Response

(SAE07PE.12) A 2-year-old boy has complete absence of the sacrum and lower lumbar spine. What is the most likely long-term outcome if no spinal pelvic stabilization is performed?

QID: 6072
1

Progressive paralysis

20%

(43/215)

2

Neck extension contracture

3%

(6/215)

3

Inability to sit without using the hands for support

61%

(132/215)

4

Progressive hip dislocation

12%

(26/215)

5

Sexual dysfunction

3%

(6/215)

N/A E

Select Answer to see Preferred Response

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