How are the TSC genes involved? Tuberous sclerosis complex (TSC) is estimated to occur in one of every 6000 individuals in the population at birth (1). About two thirds of cases are "sporadic", that is "out of the blue", and neither the baby's father nor mother are found themselves to have TSC after full genetic testing. In the remaining one-third of cases, the baby has inherited either the TSC...

COMMONLY ASKED QUESTIONS Many parents of a child with TSC, particularly as the child gets older, express the desire for information about what the future might hold. Although there is limited information available as yet, one of the purposes of this "Fact Sheet" is to examine the available research that has followed children with TSC into adulthood to try and answer some of these questions. Man...

•We reported the first tuberous sclerosis patient with an ovarian yolk sac tumor.•Although angiomyolipoma is a common benign tumor in TS patients, abdominal malignancies must be considered.

A case of Tuberous Sclerosis with infantile autism, misdiagnosed as mental retardation with seizure disorder is being discussed in light of the implication of the misdiagnosis.

The impressive facial angiofibromas, from a 32 year-old male paciente, with the classical features of tuberous sclerosis, were compared with mulberries.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated t...

BACKGROUND AND PURPOSE The MR imaging appearance of intracranial manifestations in tuberous sclerosis varies with age. The aim of this study was to specify MR characteristics in a coherent group of neonates and infants in order to distinguish them from the mature pattern. METHODS The MR studies of seven patients under 3 months old were reviewed retrospectively. Imaging appearance, number, and...

An intracavitary right ventricular tumour was identified echocardiographically before operation in an infant with a rhabdomyoma of the heart. Necropsy showed associated tuberous sclerosis.

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

This article describes a case involving the resolution of hypsarrhythmia, a generalized abnormal EEG pattern, following focal resection of a cortical tuber in a patient with tuberous sclerosis.