Ultrafast MRI in the prenatal diagnosis of Bourneville's tuberous sclerosis.

Antenatal MRI in the diagnosis of tuberous sclerosis.

Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous syndrome characterized by multiorgan hamartomas, epilepsy and mental retardation. Prenatal genetic testing for a mutation is laborious, time consuming and not widely available because of the genetic heterogeneity, polymorphism and a high rate of denovo mutations(1,2). We hereby highlight the utility of prenatal magnetic resonance i...

Images in cardiovascular medicine. Cardiac rhabdomyomas in tuberous sclerosis (Bourneville's disease).

Prenatal Diagnosis of Intracranial Tumors and the Difficulties in Prognostication: A Report of Three Cases

Prenatal diagnosis of intracranial tumors generally implies a poor prognosis. We present three such cases, where prognostication was difficult. We attempted to correlate our prenatal counseling with postnatal follow-up/postabortal diagnosis. In the first case, tumor was diagnosed at 37 weeks. Ultrasound and fetal/neonatal MRI suggested a malignant intraventricular tumor. Anticipating guarded pr...

Segmental tuberous sclerosis in a patient presenting as unilateral facial angiofibromas, periungual fibromas and Shagreen patch.

Tuberous sclerosis (TS) known as Epiloia and Bourneville's disease is an autosomal dominant inherited disorder that can affect many organ systems. Tuberous sclerosis has many forms of clinical presentation. Rarely, multiple facial angiofibromas of unilateral distribution have been reported. We describe a patient with unilateral facial angiofibromas, periungual fibromas and Shagreen patch.

گزارش یک مورد نادر رابدومیوما در قلب جنین: گزارش موردی

Background: The primary manifestation of cardiac tumors in embryonic period is a very rare condition. Cardiac rhabdomyomas most frequently arise in the ventricular myocardium, they may also occur in the atria and the epicardial surface. In spite of its benign nature, the critical location of the tumor inside the heart can lead to lethal arrhythmias and chamber obstruction. Multiple rhabdomyomas...