Tuberous sclerosis complex (TSC), known as Bourneville-Pringle syndrome, is a genetically conditioned multiple organ disease associated with mental retardation and epilepsy. It could be found in any ethnic groups and races in both sexes. It is estimated that about 2 million people suffer from the disease in the world. Clinical manifestations in the disease could be various. Many signs appear along with the natural development of a child. Lesions that could be found in the disease are associated with skin, nervous system, eye bulbs, heart, kidneys, liver and intestines. These could take form of cysts as well as tumours that could become malignant. Histologically these are fibromas, lipomas, myomas or vasolipomyomas. Specific organ lesions do not require histological confirmation. TSC diagnosis could be established on Gomez criteria established on TSC Consensus in Annapolis in 1998. TSC diagnosis could be assumed as final, when two major criteria are met or one major and two minor. There are no pathognomonic signs of TSC. That means many signs should be taken into account, sometimes hard to find in not highly specialized assessment. Many specialists and specific tests should take part in diagnosis establishment (dermatologic, neurologic, oculistic, cardiologic, endoscopic and imaging procedures – USG, CT, MRI, PET-CT). Family background and often assessment of family members is essential for diagnosis establishment. Therapeutic indications for specific organ lesions need individual approach. Treatment of the illness could be only palliative. It is based on surgical procedures of malignant tumours resection and antiepileptic treatment. In the paper authors discuss case of woman with liver lesions. Those weren’t assessed histologically because of the high risk of hemorrhagic complications. Follow-up was planned with use of imaging procedures. Discussed case shows that during decision making process risk assessment of imaging procedures should be taken into account.
Keywords: tuberous sclerosis complex, Bourneville-Pringle syndrome, computer tomography, positron emission tomography, endoscopy