A large Dutch family had been known for many years to be affected with skin tumours labelled as adenoma sebaceum, which were inherited in an autosomal dominant fashion. Since this skin sign is considered pathognomonic for tuberous sclerosis complex, the condition in the family was labelled accordingly, in the absence of further clinical features of tuberous sclerosis complex-like mental retarda...

Tuberous sclerosis complex (TSC) is known to cause severe intractable epilepsy and mental retardation; however, diagnosis can be delayed in milder cases. We report a 26-year-old right-handed female patient who started having convulsions at age 7 days. She had several focal seizures per year that were intractable to treatment with carbamazepine or phenytoin. Her two sisters had several episodes ...

Unidad Académica de Medicina de la Universidad Autónoma de Nayarit, México; Departamento de Neuropatología. Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, México; Servicio de Neurocirugía, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, México; Servicio de Neuropsiquiatría, Instituto Nacional de Neurología y Neurocirugía Manuel Velasco Suárez, Méxi...

INTRODUCTION An increased understanding of the genetic pathways involved in renal cell carcinoma has resulted in the development of various drugs that target relevant signaling cascades for the specific treatment of this disease. However, no validated predictive markers have been identified to guide the decision whether patients should receive vascular endothelial growth factor-targeted therapy...

PURPOSE To correlate the findings on MR scans of the brain in patients with tuberous sclerosis complex with mental disability and the type and age at onset of the first seizure. METHODS Patients with tuberous sclerosis complex who had MR brain scans were identified. The diagnosis was confirmed, and the clinical information on each patient was updated. The number, site, and area of abnormal si...

T he patient was an asymptomatic 33-year-old woman who had tuberous sclerosis with heart involvement. Her transthoracic echocardiogram showed multiple intramyocardial homogeneous masses in the left ventricle, the largest being 19 × 15 mm in the interventricular septum (Figure 1), and normal biventricular systolic function. Computed tomography showed images in the interventricular septum with a ...

The objective of this pictorial essay is to describe and provide examples of intracranial imaging findings of tuberous sclerosis (TS) extracted from our case series. Tuberous sclerosis is a neurocutaneous syndrome formerly described by Bourneville in 18801 (also known as Bourneville disease). This entity is an inherited autosomal dominant disease caused by mutation or deletion of two genes: one...

The molecular interplay between the phosphoinositide 3-kinase (PI3K) pathway and mammalian target of rapamycin (mTOR) signalling in the control of cell growth and proliferation has been the subject of much interest and debate amongst cell biologists. A recent escalation of research in this area has come from the discovery of the tuberous sclerosis complex gene products, tuberin and hamartin, as...

Investigators from University of California- Los Angeles and collaborators from across the country report on the use of prospective EEGs in infants with tuberous sclerosis complex (TSC) to predict evolution to seizures.