Evaluating occult spinal dysraphism in children with midline cutaneous lesions: when to image?

Occult spinal dysraphism (OSD) represents a group of congenital spinal anomalies in which neural tissue remains covered by intact skin. Because the skin and nervous system share a common ectodermal origin, midline lumbosacral cutaneous lesions are frequently associated with underlying spinal abnormalities. Identifying which cutaneous markers warrant spinal imaging remains clinically important, particularly in children presenting with bowel or bladder dysfunction.

To evaluate and emphasize the importance of the possible association between various midline lumbosacral cutaneous lesions and occult spinal dysraphism, and to determine when spinal imaging should be recommended in pediatric patients.

This retrospective case series included pediatric patients presenting between January 2019 and December 2024 with congenital midline lumbosacral cutaneous lesions and/or deviation of the gluteal furrow, and urinary or bowel symptoms. Patients with open neural tube defects were excluded. Clinical data were obtained from medical records, and imaging findings were reviewed by a team of pediatric radiologists and neurosurgeons. Spinal magnetic resonance imaging (MRI) and/or spinal ultrasound (USG) were performed to detect occult spinal anomalies. Descriptive statistical analysis was used to summarize clinical characteristics and imaging outcomes.

Twenty-six patients were included (65.4% females, mean age 2.3 years). Isolated cutaneous lesions were present in 65.4% of patients, while 34.6% had multiple lesions. The most common cutaneous marker was deviation of the gluteal furrow (38.5%), followed by port-wine stain and dermal sinus (each 19.2%). MRI was performed in 80.8% of patients and ultrasound in 30.8%. Occult spinal dysraphism was confirmed in 10 children (38.5%). Tethered cord and spinal lipomas were the most frequent abnormalities, each identified in 70% of OSD cases. OSD was more frequently associated with multiple cutaneous markers compared with isolated lesions.

Midline lumbosacral cutaneous lesions, particularly when multiple or associated with high-risk markers such as lipomas or dermal sinuses, have a significant association with occult spinal dysraphism.