Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a birth incidence of 1:6.000. It can virtually affect any organ system and all racial and ethnic groups. Clinical manifestations of TSC have variable penetrance. Many affected patients come to medical attention because of seizures or dermatological manifestations. Since no single feature of TSC is pathognomonic, an evaluation of all clinical features is necessary. Sparagana et al recommend, the execution of cranial imaging, such as brain magnetic resonance imaging (MRI) or computerized tomography (CT), and of renal ultrasound (US), on a 1-3 years basis. Brain tumors and renal lesions, in fact, account for most of the long-term morbidity and mortality caused by TSC. Renal involvement occurs with high frequency and with a wide range of severity in patients with TSC. Renal angiomyolipomas (AMLs) and cysts represent the most frequent findings in patients affected by TSC.We report the case of an 8-year old boy, born after a near term uncomplicated pregnancy, affected by TSC.
|Numero di pagine||2|
|Rivista||Iranian Journal of Pediatrics|
|Stato di pubblicazione||Pubblicato - 2011|