Overview
Lumbosacral agenesis involves the absence or underdevelopment of the sacrum and lower lumbar vertebrae, often associated with neurological and musculoskeletal complications. It can be linked to genetic mutations, such as those in the T (brachyury) gene, leading to additional anomalies like abnormal vertebral ossification and persistent notochordal canal 1.Diagnosis
Clinical Features: Short intergluteal cleft, flattened buttocks, narrow hips, distal leg atrophy, talipes deformities, preserved sensation with motor deficits, and universal urinary and bowel dysfunction 2.
Imaging Studies:
- CT Myelography/MRI: Essential for assessing vertebral anomalies, dural sac abnormalities, and spinal cord malformations 2.
- Key Findings: Nonstenotic narrowing of the caudal bony canal, dural sac shortening, and potential hyperostosis indenting the caudal thecal sac 2.Management
Supportive Care: Focus on managing neurological deficits, urinary and bowel dysfunction, and musculoskeletal deformities.
Orthopedic Interventions: Address talipes deformities and hip/pelvic abnormalities with appropriate bracing or surgical correction as needed.
Neurological Support: Regular monitoring and management of motor deficits, possibly including physical therapy and assistive devices 2.Special Populations
Pediatrics: Close monitoring for developmental milestones and early intervention for motor and sensory impairments 2.
Comorbidities: Consideration of associated syndromes like OEIS or VATER, requiring multidisciplinary care addressing multiple system anomalies 2.Key Recommendations
Genetic Testing: Consider genetic analysis, particularly for mutations in the T (brachyury) gene, in patients with lumbosacral agenesis and associated vertebral anomalies 1 (Evidence: Moderate).
Comprehensive Neuroimaging: Utilize MRI or CT myelography to evaluate spinal cord and vertebral column abnormalities in diagnosis and follow-up 2 (Evidence: Moderate).
Multidisciplinary Approach: Implement a team-based care model addressing orthopedic, neurological, and urological needs in pediatric patients 2 (Evidence: Expert opinion).References
1 Postma AV, Alders M, Sylva M, Bilardo CM, Pajkrt E, van Rijn RR et al.. Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. Journal of medical genetics 2014. link
2 Pang D. Sacral agenesis and caudal spinal cord malformations. Neurosurgery 1993. link
3 Toriello HV, Bauserman SC. Bilateral pulmonary agenesis: association with the hydrolethalus syndrome and review of the literature from a developmental field perspective. American journal of medical genetics 1985. link