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Association of imperforate anus with occult spinal dysraphism
D E Tsakayannis1, R C Shamberger
1Department of Surgery, Children's Hospital, Boston, MA 02115, USA.
Insights
Fourteen percent of infants with imperforate anus have occult spinal dysraphism, a condition treatable with neurosurgery. Early detection through spinal imaging is crucial for preventing neurological deficits.
Area of Science:
- Pediatric Surgery
- Neurology
- Developmental Biology
Background:
- Imperforate anus in infants can be associated with neurological deficits.
- These deficits may stem from spinal cord anomalies requiring neurosurgical intervention.
- The exact frequency of this association, particularly occult spinal dysraphism, requires further definition.
Purpose of the Study:
- To prospectively determine the frequency of spinal cord anomalies in infants diagnosed with imperforate anus.
- To identify the prevalence of occult spinal dysraphism in this patient population.
- To assess the correlation between spinal anomalies and factors like malformation type or sacral abnormalities.
Main Methods:
- Prospective study of 45 infants with imperforate anus from 1985 to 1992.
- Utilized various spinal cord imaging techniques including radiographs, ultrasound, MRI, CT, and myelography.
- Analyzed data for bony sacral abnormalities and spinal cord anomalies, including tethered cord and lipoma.
Main Results:
- Eight infants (17.8%) presented with spinal cord abnormalities.
- Two had overt myelomeningocele; six (13.3%) had occult spinal dysraphism (tethered cord +/- lipoma).
- No correlation found between tethered cord and infant gender, imperforate anus type, or sacral dysplasia.
Conclusions:
- Occult spinal dysraphism occurs in 14% of infants with imperforate anus.
- This association is independent of imperforate anus type or bony sacral anomalies.
- Neurosurgical intervention for identified spinal defects resulted in no neurological sequelae.
Abstract:
Neurological deficits may occur in some children with imperforate anus produced by unrecognized spinal cord anomalies amenable to neurosurgical correction. Although this association has been well described, its frequency has not been defined. The authors prospectively studied 45 infants with imperforate anus from 1985 to 1992 to establish the frequency of this association. Eighteen infants (40%) had high imperforate anus, 24 had low imperforate anus (53%), and 3 had anal stenosis (7%). All underwent radiographic spinal cord imaging in early infancy, which consisted of radiographs (45), ultrasound (26), magnetic resonance imaging (29), computed tomography (1), and myelography (1). Thirty-three percent of the patients with imperforate anus had bony sacral abnormalities. Eight infants were discovered to have spinal cord abnormalities. Two of those infants had obvious myelomeningocele at birth, and 6 infants (14%) had occult spinal dysraphism consisting of tethered cord with or without associated lipoma of the cord. There was no correlation between the presence of tethered cord and the gender of the infants, the type of malformation (high versus low imperforate anus), or the presence of sacral dysplasia (Fisher's exact test). Five of the infants who were found to have tethered cord underwent neurosurgical intervention and repair of the defect, and 1 infant was followed up clinically. The mean follow-up time of all the infants was 2.5 +/- 0.9 (+/- SD) years. No neurological sequelae occurred in the infants who had surgical correction. The frequency of occult spinal dysraphism with imperforate anus was 14%. It was independent of the type of imperforate anus or the coexistence of bony sacral anomalies.(ABSTRACT TRUNCATED AT 250 WORDS)