BACKGROUND Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that mainly causes hamartomas to develop in different parts of the body. TSC, an autosomal dominant trait with variable penetrance, can adversely affect maternal and fetal outcome. CASE PRESENTATION In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabd...

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomatous involvement of multiple organs such as the skin, central nervous system, kidneys, lungs, and heart. A linkage has been found with a locus on the long arm of chromosome 9 (9q34) and with a locus on the short arm of chromosome 16 (16p13). TSC has a birth incidence of 1/6000. Children with TSC are alm...

INTRODUCTION Tuberous sclerosis complex (TSC) is a genetic disorder characterised by lesions affecting brain, skin, eyes and internal organs--kidneys, heart, liver and lungs. Renal involvement in individuals with TSC is common and potentially serious, includes angiomyolipomas and cystic lesions. There may also be an increased risk of renal cell carcinoma. CASE REPORT A case of 17-year-old boy...

Investigators from University of California Los Angeles, studied whether epileptogenic tubers in Tuberous Sclerosis Complex (TSC) can be identified by diffusion tensor imaging (DTI).

Zusammenfassung Tuberöse Sklerose („tuberous sclerosis complex“ [TSC]) ist eine seltene genetische Erkrankung, die neben kutanen und viszeralen Organmanifestationen typischerweise bereits in einem sehr frühen Erkrankungsstadium mit einer schweren, meist therapierefraktären Epilepsie einhergeht. Aufgrund seiner direkten Wirkung am durch TSC dysregulierten mTOR-Signalweg sowie der synergistischen...

Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement. Recent revelations in the cell biology of these renal disease manifestations as well as effective therapies for tuberous sclerosis complex-related renal issues have heralded hope of improved renal sur...

BACKGROUND AND OBJECTIVES Tuberous sclerosis complex (TSC) is a multi-systemic disorder that involves primarily CNS, skin, kidney and heart. The aim of this study is to determine whether seizures type, interictal EEGs and tubers burden in MRI are correlated to seizure and intellectual outcome, and to identify the clinical risk factors for mental retardation and developing autism in these patien...