Intraventricular lesions in tuberous sclerosis complex: a possible association with the caudate nucleus

Abstract

<jats:sec> <jats:title>Object</jats:title> <jats:p>Tuberous sclerosis complex (TSC) can manifest with 3 principal intracranial pathological entities: cortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). The authors analyzed the location and growth of intraventricular lesions in a large cohort of patients with TSC.</jats:p></jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>After institutional review board protocol approval, the authors retrospectively reviewed brain MRI scans of TSC patients for whom at least 1 electronically stored cranial MRI study was available. Collected data included location, size, and growth over time of all intraventricular lesions.</jats:p></jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>The authors reviewed 560 scans in 103 patients, who harbored 496 intraventricular lesions. Of the 496 lesions, 157 lesions were located along the caudate-thalamic groove (CTG) in 88 patients. Twenty SEGAs were operated on. The remaining 339 lesions were distributed along the lateral ventricle, always in contact with the course of the caudate nucleus, and were presumed to be SENs. Twenty-two patients with more than 4 years of follow-up had 34 lesions along the CTG, of which 23 were stable in size and 11 grew. All other intraventricular lesions were stable. Seven-Tesla MRI showed the intimate association of SENs and the caudate nucleus in 1 patient.</jats:p></jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Intraventricular lesions in TSC patients are located throughout the lateral ventricular wall. Their location exclusively follows the course of the caudate nucleus. Only lesions along the CTG showed the potential to grow, and these were then identified as SEGAs. The remaining lesions were SENs. Understanding why these lesions develop in relation to the caudate nucleus may offer insights into therapy.</jats:p></jats:sec>

Thyroid transcription factor-1 distinguishes subependymal giant cell astrocytoma from its mimics and supports its cell origin from the progenitor cells in the medial ganglionic eminence

“…9,10 Whether these tuberous sclerosis complex-related CNS lesions morphologically resemble the giant cells in subependymal giant cell astrocytoma is because they arise from a common origin or because they share a common genetic alteration remains controversial. 2,3,23 Finally, given the immunohistochemical evidence of mixed glioneuronal differentiation of this tumor, the classification of subependymal giant cell astrocytoma as an 'astrocytoma' may not be appropriate. 1,[8][9][10][11][12][13] In most of the subependymal giant cell astrocytomas, the giant cell feature is fairly eye-catching.…”

“…1 The tumor most commonly occurs in the first two decades of life and typically arises from the caudothalamic groove adjacent to the foramen of Monro. 2,3 Making the correct diagnosis of subependymal giant cell astrocytoma is highly relevant because it is one of the major diagnostic criteria for tuberous sclerosis complex. 4 In addition, due to its slowly growing nature, patients with subependymal giant cell astrocytoma are precluded from further aggressive treatment such as chemo-and radiotherapy, which are often applied to patients with higher-grade gliomas.…”

Characterization of the Basal Ganglia Using Diffusion Tensor Imaging in Children with Self‐Injurious Behavior and Tuberous Sclerosis Complex

“…Isik et al described the growth of subependymal giant cell astrocytomas in the basal ganglia of two infants with TSC . Whole‐brain mapping in individuals with TSC revealed a predominance of subependymal nodules in association with the caudate nucleus . Functionally, working memory impairments in TSC were associated with basal ganglia lesions, along with other cortical regions .…”

Stochastic Model of Tsc1 Lesions in Mouse Brain

“…The potential for growth of these lesions has led to formal guidelines that recommend frequent periodic screening by MRI in TSC children and young adults. Further, a recent report indicated that about one third of SENs were observed to grow over a 4-year period postnatally [32]. Moreover, progressive increase in size of a SEN to a diameter >1 cm is seen in 5–10% of all children with TSC, necessitating intervention by either treatment with mTOR inhibitors, rapamycin [33] or everolimus [34], [35], or surgical removal [36], [37].…”