ILAE neuroimaging task force highlight: Subcortical laminar heterotopia

Abstract

The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy consistent with the ILAE's educational mission. Subcortical laminar heterotopia, also known as subcortical band heterotopia (SBH) or “double cortex,” is an intriguing and rare congenital malformation of cortical development. SBH lesions are part of a continuum best designated as agyria‐pachygyria‐band‐spectrum. The malformation is associated with epilepsy that is often refractory, as well as variable degrees of developmental delay. Moreover, in an increasing proportion of cases, a distinct molecular‐genetic background can be found. Diagnosing SBH can be a major challenge for many reasons, including more subtle lesions, and “non‐classic” or unusual MRI‐appearances. By presenting an illustrative case, we address the challenges and needs of diagnosing and treating SBH patients in epilepsy, especially the value of high‐resolution imaging and specialized MRI‐protocols.

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia

“…Furthermore, the severity of neurological impairment, epileptic seizures and intellectual disability were found to be correlated with the degree of gyral pattern of cortical malformation as well as the thickness of the heterotopic band detected by brain magnetic resonance imaging (MRI) [3]. The International League Against Epilepsy (ILAE) Neuroimaging Task Force has recently addressed the challenges of diagnosing and managing SBH cases, emphasizing the value of appropriate high-resolution MRI protocols [12].…”