Antenatal MRI in the diagnosis of tuberous sclerosis.

نویسندگان

  • Kavitha Kothur
  • Munni Ray
چکیده

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 imaging (MRI) as an adjunctive imaging modality in the diagnosis and prognosis of TS.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

گزارش یک مورد از تومورهای گرد در رتین به همراه هامارتومای بینی دریک بیمار مبتلا به توبروزاسکلروزیس

Introduction: Tuberous Sclerosis (TS) is an autosomal dominant disease that affects the brain, skin, eye, heart, kidney even bones. The commonest presentation is seizures in infancy or early childhood (in 80% of cases), mental retardation (in 44%of cases). Characteristic skin lesion includes facial angiofibromas, adenoma sebaceum, hypopigmented macules, shagreen patches ungual ungual fibromas...

متن کامل

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

The purpose of this report is to highlight the utility of prenatal MRI as an adjunctive imaging modality in the diagnosis and prognosis of Tuberous Sclerosis (TS) (Bourneville's disease). We report a case of TS detected in utero at 30 weeks gestation. A routine ultrasonography at 26 weeks in a 28-year-old primigravida was followed by an ultrafast MRI examination at 30 weeks gestation. Ultrasoun...

متن کامل

Systematic review: Superparamagnetic Iron Oxide nanoparticles as contrast agents in diagnosis of multiple sclerosis

Several MRI contrast agents (CAs) are used in medical diagnosis that gadolinium (Gd3+) is the most widely used as contrast agents. Unfortunately, its toxicity is due to its inefficiency. In this review, we discuss about the ability of SPIONs in MRI and application in Multiple Sclerosis diagnosis. Superparamagnetic iron oxide nanoparticles (SPIONs) such as magnetite nanoparticles are used as goo...

متن کامل

Association of Pemphigus Vulgaris and Tuberous Sclerosis: A case report

Pemphigus vulgaris is a blistering autoimmune disease with suprabasal cleft formation, which is the most common autoimmune blistering disease in eastern countries, such as Middle East. Predisposition to pemphigus is linked to genetic factors. Tuberous sclerosis is also a genetic disorder of hamartoma formation in many organs, particularly the skin, brain, eye, kidney and heart. We report ...

متن کامل

Cardiac rhabdomyomata as a marker for the antenatal detection of tuberous sclerosis.

We report the echocardiographic identification of cardiac tumours in antenatal life in a pregnancy where the father was known to have tuberous sclerosis. This allowed termination of an affected pregnancy in the second trimester.

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Indian pediatrics

دوره 43 11  شماره 

صفحات  -

تاریخ انتشار 2006