Purpose The present study aimed to elucidate the clinical characteristics of children with tuberous sclerosis complex (TSC) in Korea using Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) checklist evaluate comorbidities neurocognitive and socioemotional problems Korean setting. Methods A survey based on TAND was administered 58 TSC receiving treatment an outpatient basis. Their ...

Tuberous sclerosis complex Syndrome (TSCs) is an autosomal dominant disorder affecting multiple organs; caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumours affecting different body systems. The most common visible manifestations of TSC are facial angiofibromas and the formation of hamartomas in ...

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...

Failure in the regulation of mTOR (mammalian target of rapamycin) appears to be critical to the pathogenesis of the inherited disorder tuberous sclerosis and the related lung disease LAM (lymphangioleiomyomatosis). Both diseases are caused by mutations of TSC1 or TSC2 (TSC is tuberous sclerosis complex) that impair GAP (GTPase-activating protein) activity of the TSC1-TSC2 complex for Rheb, lead...

Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 genes lead to disruption of the TSC1-TSC2 intracellular protein complex, causing overactivation of the mammalian target of rapamycin (mTOR) protein complex. The surveillance and management guidelines and clinical criteri...

A 19-year-old man with refractory generalized epilepsy related to tuberous sclerosis complex (TSC) (figure 1) complained of chronic left facial swelling. Physical examination disclosed typical mucocutaneous findings of TSC (hypomelanotic macules, shagreen patch, ungual fibromas, facial angiofibromas) and a hardened well-limited mass in his left maxilla, evidenced as an odontogenic extensive lef...

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are two different genetic diseases. Although these two diseases are associated very rarely, the association is well recognized. This occurs due to a large deletion involving both PKD-1 and TSC-2 genes on chromosome 16. This is also known as TSC-2/PKD-1 contiguous gene syndrome. We report a 26-year-old fema...

The protein products of the tuberous sclerosis complex (TSC) genes, TSC1 and TSC2, form a complex, which inhibits the small G-protein, Ras homolog enriched in brain (Rheb). The vast majority of research regarding these proteins has focused on mammalian Target of Rapamycin (mTOR), a target of Rheb. Here, we propose that there are clinically relevant functions and targets of TSC1, TSC2 and Rheb, ...

Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disorder caused by mutations in the TSC1 or TSC2 genes and is frequently associated with hamartoma formation in multiple organ systems. Here, we report two novel mutations in the TSC2 gene, including a splicing mutation (IVS 29 +1G>C) in intron 29 and a deletion/insertion mutation (C.5090-5092delCCA- inAG) in exon 39 in two ...

Tuberous sclerosis complex (TSC) is an autosomal dominant disease with a wide spectrum of pathological lesions [1,2]. Almost half of the patients with TSC have an underlying renal pathology, mainly angiomyolipomas, cysts and/or renal cell carcinoma [3,4]. TSC rarely involves medium size and large vessels, including the renal arteries. Arterial aneurysms have been reported for intracranial arter...