Patterns of spinal cord malformation in cloacal exstrophy

Area of Science:

• Pediatric Radiology
• Developmental Biology
• Spinal Imaging

Background:

• Cloacal exstrophy (CEX) is a complex congenital anomaly.
• Spinal dysraphism is a known association with CEX.
• Understanding the spectrum of spinal anomalies in CEX is crucial for patient management.

Purpose of the Study:

• To determine the prevalence and types of spinal dysraphism in children with CEX.
• To evaluate the utility of MRI in characterizing these anomalies.
• To assess the applicability of current embryological classifications.

Main Methods:

• Retrospective review of spinal MRIs from children with CEX (1999-2019).
• Consensus review of imaging to identify and classify spinal dysraphisms.
• Classification based on descriptive anatomy and embryological categories (gastrulation, primary/secondary neurulation).

Main Results:

• 34 children included; 33 had closed spinal dysraphism.
• All cases involved the conus and/or filum terminale.
• Common malformations: spinal lipoma (n=20) and terminal myelocystocele (n=11).
• Unusual noncontiguous double lipomas observed in 50% of lipoma cases.
• Majority of malformations consistent with secondary neurulation disorders.

Conclusions:

• Complex spinal dysraphisms are consistently linked to CEX.
• Observed patterns challenge existing embryological classifications.
• Routine spinal MRI is recommended due to risk of neurological deterioration.
• Findings inform understanding of lumbosacral lipoma pathogenesis and classification.