Brain abnormalities in myelomeningocele patients

Background Myelomeningocele (MMC) is often related to hydrocephalus and Chiari malformation (CM) type 2; however, other brain abnormalities have been reported in this population. In order to better understand and quantify other forebrain abnormalities, we analyzed magnetic resonance imaging (MRI) of MMC patients treated in utero or postnatal. Methods Between January 2014 and March 2017, 59 MMC were treated in our hospital. Thirty-seven patients (32 postnatal and 5 intrautero repair) had brain MRI and were enrolled at the study. MRI was analyzed by two experienced neuroradiologists to identify the supra and infratentorial brain abnormalities. Results A wide range of brain abnormalities was consistently identified in MMC patients. As expected, the most common were hydrocephalus (94.5%) and CM type II (89.1%). Of note, we found high incidence of corpus callosum abnormalities (86.4%), mostly represented by dysplasia (46%). Conclusions The data are consistent with the concept that brain abnormalities related to MMC can be both infratentorial and supratentorial, cortical, and subcortical. More studies are needed to correlate these forebrain abnormalities to long-term functional outcome and their prognostic value for these patients.