Incidence of Occult Spinal Dysraphism Among Infants With Cutaneous Stigmata and Proportion Managed With Neurosurgery: A Systematic Review and Meta-analysis

IMPORTANCE: Occult spinal dysraphism (OSD) is the most common congenital spinal anomaly. Cutaneous anomalies such as skin dimples or deviated gluteal folds are well known as stigmata of OSD and are indicators for further evaluation; however, the association between cutaneous anomalies and OSD has not been systemically evaluated. OBJECTIVE: To evaluate the incidence of OSD and the proportion of OSD cases managed with a neurosurgical intervention among neonates or infants with various cutaneous stigmata. DATA SOURCES: PubMed and Embase databases were searched for studies published up to July 25, 2018, that evaluated the proportion of OSD cases in neonates or infants with cutaneous stigmata. Search terms included ultrasound, dysraphism, dimple, and infant or neonate. The search was limited to English-language publications. STUDY SELECTION: Two reviewers selected the studies evaluating the incidence of OSD among neonates or infants with cutaneous stigmata. DATA EXTRACTION AND SYNTHESIS: The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines for data extraction were followed. Pooled proportions of OSD cases and OSD cases that were managed with a neurosurgical intervention were obtained using the generalized linear mixed model and maximum likelihood method. MAIN OUTCOME AND MEASURES: The pooled incidence of OSD and OSD cases managed with neurological surgery among patients with cutaneous stigmata was the primary outcome. This outcome was also evaluated in each subgroup, and heterogeneity was explored using subgroup analysis. RESULTS: A total of 15 studies, involving 6558 neonate or infant patients with various cutaneous stigmata, were included. The pooled proportion of OSD cases among the patients with cutaneous stigmata was 2.8% (95% CI, 2.1%-3.8%; I(2) = 51.6%), and the proportion managed with neurological surgery was 0.6% (95% CI, 0.3%-1.3%; I(2) = 66.4%). Cases with combined stigmata showed a significantly higher association with OSD than those with a single stigma (10.5% [95% CI, 6.9%-15.8%] vs 2.3% [%, 95% CI, 1.5%-3.5%]; P < .001). The pooled proportion of OSD cases among patients with an atypical dimple was significantly higher than among those with simple dimple (8.8% [95% CI, 4.5%-16.6%] vs 0.6% [95% CI of 1.4%-2.1%]; P = .001). CONCLUSIONS AND RELEVANCE: The proportion of OSD in healthy, asymptomatic patients with midline cutaneous stigmata was low, and the proportion of patients who underwent a neurosurgical intervention was even lower. However, a careful evaluation as well as potential spinal magnetic resonance imaging is recommended for neonates or infants with combined stigmata or an atypical dimple for possible high-risk lesions.