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Anorectal malformations: evaluation of associated spinal dysraphic syndromes
F M Karrer1, A M Flannery, M D Nelson
1Department of Surgery, Children's Memorial Hospital, Chicago, IL 60614.
Insights
Early detection of spinal cord lesions in infants with anorectal malformations using high-resolution ultrasonography can preserve neurological function. This non-invasive imaging is crucial for timely intervention in neonates.
Area of Science:
- Pediatric Surgery
- Neuroradiology
- Developmental Biology
Background:
- Anorectal malformations (ARMs) are often associated with spinal dysraphism.
- Untreated spinal cord lesions can lead to significant neurological deficits.
- Early identification and management are key to preserving neurological function.
Purpose of the Study:
- To evaluate the effectiveness of high-resolution ultrasonography in detecting spinal cord lesions in neonates with ARMs.
- To assess the clinical presentation and outcomes of spinal dysraphism in patients with ARMs.
Main Methods:
- Retrospective review of 14 patients with ARMs and spinal dysraphism over 7 years.
- Utilized high-resolution ultrasonography, CT, and MRI for spinal imaging.
- Correlated imaging findings with clinical symptoms and neurological examinations.
Main Results:
- High-resolution ultrasonography accurately detected tethered cord and intraspinal masses in neonates.
- Seven of 14 patients presented with neurological symptoms (progressive deficit, incontinence).
- Two asymptomatic patients with cutaneous abnormalities were diagnosed via ultrasonography.
Conclusions:
- High-resolution ultrasonography is a valuable, non-invasive tool for early screening of spinal anomalies in neonates with ARMs.
- Ultrasonography can potentially reduce the need for more invasive imaging techniques.
- Timely diagnosis and treatment of spinal lesions are essential for preventing long-term neurological sequelae.
Abstract:
The early recognition and treatment of correctable lesions of the terminal spinal cord in patients with anorectal malformations may preserve important neurologic function. Tethered cord and intraspinal masses are detectable with the use of high-resolution ultrasonography in the neonate. Fourteen infants and children with anorectal malformations and associated spinal dysraphism have been identified in our institution over the past 7 years. Six patients had cloacal exstrophy, and eight had imperforate anus (four high and four low lesions). The spinal lesions caused symptoms in only seven children; progressive neurologic deficit in five, and urinary incontinence or retention in two others. Five asymptomatic patients with cutaneous abnormalities on the back were studied and two were discovered during scoliosis evaluation. Imaging techniques included high-resolution ultrasonography, computed tomography with and without metrizamide myelography, and magnetic resonance imaging. Spinal sonography was highly accurate in the neonatal period. The application of ultrasonography can be of great advantage in early screening of patients with anorectal malformations and, in some cases, may eliminate the need for invasive imaging techniques.