Anorectal malformations associated spinal cord anomalies

Area of Science:

• Pediatric Surgery
• Developmental Biology
• Clinical Genetics

Background:

• Anorectal malformations (ARM) represent a spectrum of congenital anomalies affecting the terminal portion of the gastrointestinal tract.
• Spinal cord anomalies (SCA) are frequently associated with ARM, necessitating a thorough understanding of their interrelationship and clinical implications.
• Identifying predictive factors for SCA and neurosurgical intervention in ARM patients is crucial for optimizing patient management.

Purpose of the Study:

• To identify clinical and pathological factors predicting spinal cord anomalies (SCA) in patients with anorectal malformations (ARM).
• To determine predictors for the need for neurosurgical intervention in ARM patients with SCA.
• To evaluate the impact of SCA on the functional outcomes of patients diagnosed with ARM.

Main Methods:

• A 16-year retrospective analysis of pediatric patients diagnosed with ARM at a single tertiary children's hospital.
• Data collection focused on clinical characteristics to assess the prevalence of SCA, detected via spinal MRI.
• Comparison of surgically treated vs. non-surgically treated SCA patients, and comparison of intermediate/high ARM patients with and without SCA regarding functional outcomes (neurogenic bladder, constipation, soiling, bowel management).

Main Results:

• Of 275 ARM patients, 142 underwent spinal MRI, revealing SCA in 85. SCA was associated with higher prevalence of preterm birth, cardiac, vertebral, and sacral anomalies, and VACTERL association.
• Ten patients underwent surgical treatment for SCA, exhibiting significantly higher rates of neurogenic bladder, neuro-motor deficits, vertebral, and genital anomalies (e.g., cryptorchidism).
• In patients with intermediate/high ARM, SCA presence did not significantly affect neurogenic bladder, intestinal function, or the need for bowel management.

Conclusions:

• Predictive factors for SCA and the need for neurosurgery in ARM patients can be identified.
• Spinal cord anomalies (SCA) themselves do not appear to negatively influence the functional prognosis in children with intermediate/high ARM.
• These findings aid physicians in stratifying the clinical and diagnostic pathways for patients with ARM and associated spinal anomalies.