Updated: 6/15/2021

Sacral Agenesis

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Flashcards
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Questions
3
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Evidence
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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
Flashcards (3)
Cards
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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

Alcoholism

24%

(92/386)

Drug abuse

18%

(69/386)

Down syndrome

5%

(19/386)

Diabetes mellitus

52%

(201/386)

Idiopathic scoliosis

1%

(3/386)

L 4 E

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(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

Progressive paralysis

20%

(71/348)

Neck extension contracture

2%

(8/348)

Inability to sit without using the hands for support

63%

(219/348)

Progressive hip dislocation

10%

(34/348)

Sexual dysfunction

4%

(14/348)

N/A E

Select Answer to see Preferred Response

(SBQ04PE.14) During a medical mission to Guatemala, a 6-year-old child is brought to clinic for his first orthopaedic evaluation. His mother reports that he required major colorectal surgery shortly after birth and was never able to walk. He in unable to sit unsupported without using his hands to stabilize himself. He is otherwise cognitively normal and has excellent upper extremity strength. Radiographs of his pelvis are are shown in Figures A and B. Which of the following is accurate regarding his condition:

QID: 2199
FIGURES:

Motor deficits correlate with the vertebral level affected, but sensory deficits do not

12%

(218/1860)

Neurologic deficits are static, but musculoskeletal manifestations are progressive

21%

(396/1860)

Protective sensation is often absent, increasing the risk for decubitus ulcers

25%

(465/1860)

The goal of spinopelvic fusion is to promote ambulation

5%

(101/1860)

There is an association with maternal diabetes and folate deficiency

35%

(648/1860)

L 5 D

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Evidence (3)
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