Association between tuberous sclerosis and intracranial aneurysms is not well established and is at best suspicious. Sporadic cases of incidentally detected unruptured single, anterior circulation aneurysms have been reported in the literature in cases of typical tuberous sclerosis. We herein describe an unrecognised case of atypical tuberous sclerosis with bilateral PCom aneurysms which was di...

Tuberous sclerosis complex is characterized by hamartomatous lesions involving skin, brain, kidneys, eyes and heart. Pathologically, tuberous sclerosis is a disorder of cell migration, proliferation and differentiation. Cell lineage and cell migration disorders in the developing cortex of tuberous sclerosis complex patients might produce very different neurological phenotypes including epilepsy...

Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with pathogenic mutation in tumour suppressor genes i.e. Sclerosis Complex 1 or 2 which codes for protein hamartin and tuberin leading to unopposed hyperactivation of mammalian target rapamycin signalling pathway. presents tria...

Tuberous sclerosis (TS) known as Epiloia and Bourneville's disease is an autosomal dominant inherited disorder that can affect many organ systems. Tuberous sclerosis has many forms of clinical presentation. Rarely, multiple facial angiofibromas of unilateral distribution have been reported. We describe a patient with unilateral facial angiofibromas, periungual fibromas and Shagreen patch.

Tuberous sclerosis is a known phakomatosis and the associated finding of a subependymal giant cell astrocytoma is common with this disorder. A case of tuberous sclerosis with a finding not previously reported, i.e. that of a pleomorphic xanthoastrocytoma, is presented here.

Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals.

Tuberous sclerosis is an autosomal dominant trait in which the dysregulation of cellular proliferation and differentiation results in the development of hamartomatous growths in many organs. The TSC2 gene is one of two genes determining tuberous sclerosis. Inactivating germline mutations of TSC2 in patients with tuberous sclerosis and somatic loss of heterozygosity at the TSC2 locus in the asso...

Normal-appearing white matter has been shown via diffusion tensor imaging to be affected in tuberous sclerosis complex. Under the hypothesis that some systems might be differentially affected, including the visual pathways and systems of social cognition, diffusion properties of various regions of white matter were compared. For 10 patients and 6 age-matched control subjects, 3 T magnetic reson...

Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disease with a high mutation rate. It is clinically a very variable disorder and hamartomas can occur in many different organs. TSC shows genetic heterogeneity; one gene, TSC1, is on chromosome 9q34, and the second gene, TSC2, on chromosome 16p13.3. Clinical criteria for diagnosis have been established, but diagnosis of patie...

A middle aged female from Northern India, presented to the Outpatient department with cutaneous lesions typical of Tuberous Sclerosis Complex (TSC) without intellectual disability. She had multiple skin which are enlisted below: