An Unusual Tuberous Sclerosis Case Presenting with Fibrillary Astrocytoma

Abstract

Tuberous sclerosis (TS) is an autosomal dominant disorder. It is characterized by hamartomatous lesions in various organs such as the brain, skin, kidneys and heart. Subependymal and parenchymal nodules occur in the cerebrum. Although giant cell astrocytoma may develop from these subependymal nodules, tumor formation is very rare in the cortical nodules. We present the clinical, computed tomography and magnetic resonance imaging findings of a fibrillary astrocytoma originating from a cortical tuber in a 4-year-old female with TS.

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

“…The predilection for SENs along the lateral ventricular wall is well documented. 3,6,10,15,18,21,29 Some authors have located SENs along the ventricular surface of the caudate nuclei or near the sulcus terminalis embedded in the caudate or thalamus. 19,22 However, they have not explicitly correlated all anatomical locations throughout the ventricles with the caudate nucleus.…”

“…6,10,11,19,34,39 They are typically located in the lateral ventricles adjacent to the foramen of Monro and may grow and cause obstructive hydrocephalus. 6,11,12,[14][15][16]19,23,34,38,40 In the current study, we analyzed the location and growth of intraventricular lesions (SENs and SEGAs) in a large cohort of patients with TSC.…”

Tuberous sclerosis complex and sphenoid meningioma

“…We present a patient who presented three characteristic lesions of this rare disease: such as, cortical tubers, subependymal nodules, subependymal giant cell astrocytomas [1][2][3] , and meningioma, that not this considered like part of this disease, which was peculiar to this case. The association of the three lesions suggests a possible common connective-tissue defect.…”

“…There is immense variability in the clinical presentation of tuberous sclerosis and many incomplete forms (formes frustes) exist [1][2][3] . The presence of meningiomas and skin melanomas in glioma families may indicate a novel association as a cancer susceptibility trait 4 .…”

“…However, fibrillary astrocytoma may be originating from a cortical tuber 3 . We favored the hypothesis of the simultaneous occurrence of the two tumors rather than a common pathway giving rise to two tumor entities, or may be we have to differentiate it from a cerebral collision tumor in which a convexity meningioma was invaded by astrocytoma 4,5 .…”