TUBEROUS SCLEROSIS, CRITERIA FOR DIAGNOSTICS: CLINICAL CASE

Abstract

Tuberous sclerosis (Bourneville disease) is a genetic disease with an amount number of multiorganically development of hamartomas (benign tumors) that are slowly progressing, increasing in size and violating the functions of these organs. Clinical presentation of tuberous sclerosis depends on a number, localization and the size of Hamartomas. Nevertheless, the age of the patient is of great importance. The reliable diagnosis of tuberous sclerosis is set on the basis of presence 2 primary signs or 1 primary and 2 secondary signs; possible diagnosis - on the basis of presence 1 primary sign or 1 primary and 1 secondary sign, or 2 (and more) secondary signs. First and second signs (2012. TSC Clinical Consensus Conference) Primary (Big) signs of tuberous sclerosis: Facial Angiofibroma or fibrous plaques on forehead; Hypopigmented spots; Non traumatic periungual fibromas; Aria of shagreen patches; Numerous retina hamartomas; Cortical dysplasia; cortical tuber and migrating tracts in the white substance of cerebrum; Subependymal nodules; Subependymal giant cell astrocytoma; Plural or single cardiac rhabdomyomas; Lymphangioleiomyomatosis of lungs; Amount of angiomyolipomas of kidneys. Secondary (small) signs of tuberous sclerosis: - Numerous deepening in teeth enamel; - Fibromas in oral cavity; - Hamartoma of internal organs; - Achromatic area of eye retina; - Hypomelanic macules ( ash leaf spots ); - Polycystic kidney disease. The confirmed pathogenic mutation of TSC1 or TSC2 is the most important criterion sufficient for raising of diagnosis of tuberous sclerosis. Difficulties of diagnostics are related to the expressed clinical polymorphism and age-depending debut of symptoms. Research aim. To improve knowledge of physicians about the criteria of tuberous sclerosis, taking into account polymorphic and polysystematic defeat, making progress motion and development of heavy complications. An own clinical supervision of the patient on tuberous sclerosis is brought with repressing defeat of the central nervous system, skin and kidneys. Without regard to the late debut of disease (14 years), absence of cognitive changes (maybe due to the late beginning epilepsy attack development), that is not characteristic for this disease, diagnosed is reliable, so as has 5 primary signs and 1 secondary. Being informed of physicians about the primary and secondary criteria of diagnostics, application of additional instrumental methods, and early medical-genetically consulting assists early diagnostics of disease. Exactly multidisciplinary approach, early diagnostics, treatment, rehabilitation and social adaptation, are basic directions of conduct of patients on tuberous sclerosis.

Keywords

• tuberous sclerosis
• hamartomas
• criteria for diagnostics