Tuberous sclerosis complex (TSC) is an autosomal dominant disorder due to mutations in either TSC1 or TSC2 that affects many organs with hamartomas and tumors. TSC-associated brain lesions include subependymal nodules, subependymal giant cell astrocytomas and tubers. Neurologic manifestations in TSC comprise a high frequency of mental retardation and developmental disorders including autism, as...

Subependymal heterotopia consist of gray matter nodules along the lateral ventricular walls and are associated with epilepsy and other cerebral malformations. Some cases have an X-linked inheritance, and early antenatal diagnosis of affected fetuses is important for appropriate management. We present a case of heterotopia diagnosed by sonography and MR imaging at 23 weeks' gestation and discuss...

OBJECTIVE The exact cell of origin of subependymal giant cell astrocytoma is debated but most currently consider the tumor in the astrocytic category. Mutations and subsequent biallelic inactivation of TSC1 encoding hamartin, or TSC2 encoding tuberin appear to be the underlying genetic aberrations. Inactivation leads to loss of proteins that inhibit mammalian target of rapamycin (mTOR ) disrupt...

A 19-year-old Caucasian male presented with complaints of headaches and syncope. Suspicion of hydrocephalus prompted computed tomography (CT) and magnetic resonance imaging (MRI), which revealed pineal and suprasellar prominences with diffuse, thick, nodular subependymal enhancement of the lateral and third ventricles. Based on imaging, the differential diagnosis consisted primarily of malignan...

INTRODUCTION Subependymal nodule (SEN) and subependymal giant cell astrocytoma (SEGA) are brain lesions frequently found in tuberous sclerosis (TS). As about 10-15% of SENs enlarge and transform into SEGAs, we examined here the possible mechanism of the phenomenon. MATERIAL AND METHODS Using Western blot we studied 1 SEN and 3 SEGA samples; SEN and 1 SEGA came from the same TS patient. We eva...

We have examined the subependymal region of the diencephalic third ventricle in notothenioid perciforms and report a pattern of neuropil expansions that appears to be phyletically derived for notothenioids and their outgroups but that is otherwise unique among vertebrates. We recognize five types of expansions based on their composition (from less dense neuropil to sacs) and width or protrusion...

The periventricular region was studied in the brains of 129 cases of multiple sclerosis, with the purpose of establishing the mechanism and order of events in the development of the periventricular plaque, and deciding whether there is any relationship between granular ependymitis and such plaques. Periventricular plaques were found in 82.2% of cases. Observation and computerized morphology sho...