Abstract
IntroductionRecent evidence has implicated perituberal, MRI-normal brain tissue as a possible source of seizures in tuberous sclerosis complex (TSC). Data on aberrant structural features in this area that may predispose to the initiation or progression of seizures are very limited. We used immunohistochemistry and confocal microscopy to compare epileptogenic, perituberal, MRI-normal tissue with cortical tubers.ResultsIn every sample of epileptogenic, perituberal tissue, we found many abnormal cell types, including giant cells and cytomegalic neurons. The majority of giant cells were surrounded by morphologically abnormal astrocytes with long processes typical of interlaminar astrocytes. Perituberal giant cells and astrocytes together formed characteristic “microtubers”. A parallel analysis of tubers showed that many contained astrocytes with features of both protoplasmic and gliotic cells.ConclusionsMicrotubers represent a novel pathognomonic finding in TSC and may represent an elementary unit of cortical tubers. Microtubers and cytomegalic neurons in perituberal parenchyma may serve as the source of seizures in TSC and provide potential targets for therapeutic and surgical interventions in TSC.
Highlights
Recent evidence has implicated perituberal, MRI-normal brain tissue as a possible source of seizures in tuberous sclerosis complex (TSC)
We fully describe the features of perituberal “microtubers” and focus on the importance of pathological gliotic astrocytes together with giant cells as the fundamental elements of these potentially epileptogenic structures
We have found that astrogliosis is the best criterion for morphological discrimination between tubers and the surrounding neocortical parenchyma (Figure 1)
Summary
Recent evidence has implicated perituberal, MRI-normal brain tissue as a possible source of seizures in tuberous sclerosis complex (TSC). Data on aberrant structural features in this area that may predispose to the initiation or progression of seizures are very limited. We used immunohistochemistry and confocal microscopy to compare epileptogenic, perituberal, MRI-normal tissue with cortical tubers. Cortical tubers are a hallmark of the brain pathology and a main source of epileptic activity in patients with tuberous sclerosis complex (TSC) [1]. Tubers are a type of cerebral cortical malformation that are characterized by a prominent irregularity in neocortical cytoarchitecture. Tubers are composed of abnormal cells including giant cells, dysplastic/cytomegalic neurons, and aberrant tuber astrocytes. Tubers are generally thought to be a source of ictal activity in TSC epilepsy, seizure initiation from perituberal tissue has been documented
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