Antenatal MRI in the diagnosis of tuberous sclerosis.
نویسندگان
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.
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...
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 43 11 شماره
صفحات -
تاریخ انتشار 2006