Incidence of Occult Spinal Dysraphism Among Infants With Cutaneous Stigmata and Proportion Managed With Neurosurgery

Abstract

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 andMeta-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 MEASURESThe 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. RESULTSA 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 RELEVANCEThe proportion of OSD in healthy, asymptomatic patients with midline cutaneous stigmata was low, and the proportion of patients who underwent a neurosurgical (continued) Key Points Question What is the incidence of occult spinal dysraphism (OSD) in neonates or infants with various cutaneous stigmata, and how many of these cases are managed with a neurosurgical intervention? Findings In this systematic review and meta-analysis of 15 studies involving 6558 patients, the pooled proportion of OSD among cases with cutaneous stigmata was 2.8%, and in 0.6% of patients, the condition was managed with neurological surgery. A stronger association with OSD was found in patients with combined stigmata and atypical dimple. Meaning The findings of this s...

Risk of occult spinal dysraphism based on lumbosacral cutaneous manifestations

“…2 Studies generally concur that an infant with >1 LsCM increases the likelihood of OSD. 3,[10][11][12] We previously reported a 3 ½-year study (1 March 2015-30 September 2018) of 67 infants with at least one LsCM who were evaluated in our pediatric urology clinic. 13 The most common LsCMs were duplicated or bifurcated gluteal folds (46%) and gluteal asymmetry (16%).…”

“…In children with OSDs, lumbosacral cutaneous manifestations (LsCMs) are observed in 51%-100% patients. [1][2][3][4][5] One type of OSD, tethered cord syndrome (TCS), may lead to neurological, gastrointestinal, musculoskeletal, and urinary dysfunction due to spinal cord traction. [6][7][8][9] Timely diagnosis and treatment of TCS may mitigate the devastating sequelae that may ensue.…”

Spinal Dysraphism: Presentation, Management and Outcome of Patients undergoing Surgery

“…Kumar and Singh 2003 reported that out of 155 patients of spinal dysraphism, the male to female ratio was 1.5:1. Spinal dysraphism was found to be more prevalent in infants (Choi et al, 2020). In the current study, the maximum number of patients belonged to neonatal age group.…”

Role of ultrasonography in screening of spinal dysraphism in infants at risk

“…However, the wide variation in the morphological appearances of the lumbosacral and coccygeal regions along with the sparsity of the literature regarding the predictive value of these variations, creates a diagnostic dilemma when it comes to screening neonates [9]. On the contrary, a vast majority of patients (about 50-80%) with SD are presented with cutaneous stigmata, as documented by Shields et al [20] and Choi et al [22]. This was in concordance with the 55% confronted in our study cohort.…”