Abstract
BackgroundTuberous sclerosis complex is a genetic disorder in which multiple hamartomas develop in the central nervous system and skin, as well as in internal organs such as kidneys, heart, eye bulb and lungs. Epilepsy and mental retardation are characteristic clinical manifestations. The aim of this work is to summarize types of lesions present in diagnostic imaging examinations of patients hospitalized in Provincial Hospital No. 2 in Rzeszów. Material/MethodsIn retrospective analysis we examined children who were diagnosed in Department of Radiology in Provincial Hospital No. 2 in Rzeszów in the period from 2004 to 2012. The clinical material consists of 14 children – 7 girls and 7 boys, aged 6 months–16 years. We interpreted the results of CT, MRI, US and DSA examination and evaluated abnormalities typical for TSC in different localizations. ResultsIn the central nervous system we found: subependymal nodules and white matter abnormalities in 13 out of 14 children (93%), cortical tubers in 8 patients (57%), and subependymal giant cell astrocytomas in 2 boys (14%). Two types of lesions were found in kidneys, i.e. angiomyolipomas (AML) in 7 children and cysts in 5 patients. In the heart tubers (rhabdomyomas) were diagnosed with echocardiography in 6 patients. Lesions (retinal nodular hamartomas – phakomas) were also found in the eye bulb in 4 boys. Conclusions1.In order to confirm the diagnosis of Bourneville–Pringle disease, brain MRI, CT and US of other organs need to be performed.2.The confirmation of existence of calcified subependymal nodules within supratentorial ventricular system in CT examination is typical for tuberous sclerosis complex.3.Detecting the presence of numerous angiomyolipomas in kidneys should implicate further diagnostic with brain imaging examination to diagnose TSC.
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