Cranial magnetic resonance imaging findings in 167 patients with spina bifida aperta: a retrospective study

This study aimed to comprehensively evaluate the spectrum and prevalence of cranial magnetic resonance imaging (MRI) findings in a substantial cohort of patients diagnosed with spina bifida aperta. Furthermore, the study sought to contextualize these findings by comparing them with existing literature, thereby contributing to a better understanding of the neurological landscape associated with this common neural tube defect.

A retrospective analysis was conducted on the cranial MRI scans of 167 patients who received a diagnosis of spina bifida aperta between January 2022 and December 2024 at Gaziosmanpaşa Research and Training Hospital and İstanbul Demiroglu Bilim University Florance Nightingale Hospital Spina Bifida and Fetal Centre. Demographic data and a detailed assessment of various cranial anomalies, including cerebellar ectopia (Chiari type II malformation), posterior fossa depth, hydrocephalus, tectal beaking, and other less frequent findings, were meticulously recorded and analyzed.

Our analysis revealed a high frequency of cranial anomalies in this patient population. The most prevalent findings were decreased posterior fossa depth (81.4%), cerebellar ectopia consistent with Chiari type II malformation (79.6%), hydrocephalus (69.9%), and tectal beaking (63.5%). Additionally, a range of other cranial abnormalities, including cervicomedullary kink, corpus callosum dysgenesis, and various cortical malformations, were observed with varying frequencies.

The significant prevalence of cranial anomalies, particularly those affecting the posterior fossa and ventricular system, underscores the intricate relationship between spinal and intracranial development in spina bifida aperta. Early identification of these anomalies through cranial MRI is crucial for anticipating potential neurological complications, guiding timely interventions, and ultimately optimizing the neurodevelopmental outcomes and long-term care strategies for these patients. This study provides valuable epidemiological data that aligns with and contributes to the existing body of knowledge in the field.