Spinal intradural epidermoid cysts in pediatric patients: illustrative cases and systematic review

Spinal intradural epidermoid cysts (sIECs) are rare, benign neoplasms comprising < 3% of intraspinal tumors in children. Their nonspecific clinical presentation and rarity often lead to diagnostic delays, particularly in the pediatric population. Authors of this study present 2 pediatric sIEC cases and conduct a systematic review of the literature to characterize the clinical features, management strategies, and outcomes of pediatric sIEC.

A systematic review was conducted according to PRISMA guidelines, searching the PubMed, Embase, Web of Science, and Cochrane databases from inception to December 2024 for English-language case reports and case series describing pediatric sIEC with clinical, radiological, and follow-up data. Two illustrative pediatric cases managed at the authors' institution are also described.

Thirty-eight studies comprising 48 pediatric patients were included in the analysis, as were 2 cases from the authors' institution, yielding a pooled cohort of 50 pediatric patients. The median age at presentation was 7.5 years (IQR 9.75 years), with males representing 49% of the patients. Muscle weakness (78%), sensory deficits (38%), bowel or bladder dysfunction (38%), gait disturbance (34%), and back pain (30%) were common symptoms. Spinal dysraphism (48%) and infection (20%) were frequently associated with sIECs. Tumors most often involved the thoracic (30%) and lumbar (30%) spine, with 72% of cases spanning multiple levels. Gross-total resection (GTR) was achieved in 71% (34/48) of cases, and GTR significantly reduced recurrence (3% vs 29% for non-GTR, p = 0.03, OR 0.09, 95% CI 0.01-0.86). At the last follow-up (median 8 months), 64% (28/44) of patients were symptom free and 30% (13/44) experienced symptom improvement. The tumor recurred in 12% (6/50) of cases, and overall survival was 98% (49/50 patients). GTR with complete symptom resolution was achieved in both illustrative cases.

In this first systematic review addressing sIEC in children, patients typically presented with progressive neurological deficits and the cyst was frequently associated with congenital spinal anomalies. Diffusion-weighted imaging was essential for diagnosis and surgical planning. GTR was associated with significantly lower recurrence rates and favorable neurological outcomes.