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 1 of 3 1 2 3 Previous Next This is an AAOS Self Assessment Exam (SAE) question. Orthobullets was not involved in the editorial process and does not have the ability to alter the question. If you prefer to hide SAE questions, simply turn them off in your Learning Goals. (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 Type & Select Correct Answer 1 Alcoholism 24% (98/405) 2 Drug abuse 18% (71/405) 3 Down syndrome 5% (21/405) 4 Diabetes mellitus 52% (209/405) 5 Idiopathic scoliosis 1% (3/405) L 4 Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 4 Review Tested Concept Review Full Topic This is an AAOS Self Assessment Exam (SAE) question. Orthobullets was not involved in the editorial process and does not have the ability to alter the question. If you prefer to hide SAE questions, simply turn them off in your Learning Goals. (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 Type & Select Correct Answer 1 Progressive paralysis 20% (72/356) 2 Neck extension contracture 2% (8/356) 3 Inability to sit without using the hands for support 63% (225/356) 4 Progressive hip dislocation 10% (35/356) 5 Sexual dysfunction 4% (14/356) N/A Question Complexity E Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 3 Review Tested Concept Review Full Topic (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: A B Type & Select Correct Answer 1 Motor deficits correlate with the vertebral level affected, but sensory deficits do not 12% (233/1984) 2 Neurologic deficits are static, but musculoskeletal manifestations are progressive 21% (421/1984) 3 Protective sensation is often absent, increasing the risk for decubitus ulcers 25% (502/1984) 4 The goal of spinopelvic fusion is to promote ambulation 6% (110/1984) 5 There is an association with maternal diabetes and folate deficiency 34% (684/1984) L 5 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review Tested Concept Review Full Topic
All Videos (0) Podcasts (1) Pediatrics | Sacral Agenesis Pediatrics - Sacral Agenesis Listen Now 6:21 min 6/28/2022 89 plays 1.0 (1)