Echocardiography was performed in 60 people with tuberous sclerosis to ascertain the prevalence and course of cardiac rhabdomyomata at different ages. Twenty five (58%) of 43 children had tumours, but only three (18%) of 17 adults. The tumours tended to remain the same size through childhood. Only three infants were included but evidence from this and some published case reports suggest that th...

Tuberous sclerosis complex is a multisystem genetic syndrome often affecting the central nervous system. The purpose of the current study was to identify topographical patterns in the distribution specific to epileptogenic (n = 37) and nonepileptogenic (n = 544) tubers throughout the brain for a cohort of 23 tuberous sclerosis complex patients with a history of seizures. Tubers localized to the...

We first want to congratulate the authors and the AJNR for the interesting case in “The Association between Tuberous Sclerosis and Insulinoma” (1). In this age of molecular genetics, these unusual cases have been shown to lead to major discoveries, as exemplified by the cloning of the neurofibromatosis type 1 gene. In the “Discussion,” the authors state, “Although multiple endocrine neoplasia [...

UNLABELLED Cardiac rhabdomyoma is the most common primary cardiac tumor, is considered to be a hamartoma of developing cardiac myocytes. Cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) in 50-86% of cases. Mutations in TSC-1/TSC-2 genes result in increased mammalian target of rapamycin (mTOR) pathway activation responsible for the hamartomatous lesions of tuberous scleros...

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...

The hallmark of tuberous sclerosis is the presence of multiple cortical tubers. Identifying the epileptogenic tubers is difficult and often requires invasive intracranial electroencephalograph (EEG) monitoring. We report on a patient with tuberous sclerosis upon whom the novel magnetoencephalography (MEG) technique of synthetic aperture magnetometry (SAM) with excess kurtosis (g2) analysis was ...

Abstract Tuberous sclerosis complex (TSC) integrates upstream stimuli and regulates cell growth by controlling the activity of mTORC1. TSC functions as a GTPase-activating protein (GAP) towards small GTPase Rheb inhibits Rheb-mediated activation Mutations in genes cause tuberous sclerosis. In this study, near-atomic resolution structure human reveals an arch-shaped architecture, with 2:2:1 stoi...

We report three cases of chromophobe renal cell carcinoma-like thyroid carcinoma as a novel clinicopathologic entity possibly associated with tuberous sclerosis complex. A 15-year-old female, a 19-year-old male, and a 21-year-old male presented with primary thyroid carcinoma. Two of the patients had associated tuberous sclerosis complex. Macroscopically, the carcinomas showed invasive growth. H...

Hepatic hamartomas were thought to be a rare finding in patients with tuberous sclerosis. The purpose of this study was to assess their incidence in children with tuberous sclerosis and to review the literature. During 1984-90 we examined 51 children by ultrasonography; there were 25 boys and 26 girls. Their age ranged from 3 months to 18 years. Liver hamartomas were seen in 12 (23.5%) of the c...

Tuberous sclerosis is rarely associated with autosomal dominant polycystic kidney disease in the so-called tuberous sclerosis complex. This association leads to an increased frequency of end-stage renal disease. We present a patient suffering from both syndromes, who received a renal graft and anticalcineurinic drugs as immunosuppressive agents. Progressive titration of the drug was necessary i...