Tuberous Sclerosis Complex: a Case Study

Abstract

The article is a contribution to the international database of tuberous sclerosis case studies. As tuberous sclerosis complex (Bourneville–Pringle disease) is a rare genetically determined polysystemic disease, each clinical case is very significant. The first clinical symptoms of the disease usually appear immediately after birth, but they differ in significant polymorphism and affect brain, different organs, and systems, including changes in the skin, nervous system, eyes, and inner organs. Accurate diagnosis of tuberous sclerosis is fundamental to proper medical supervision and treatment. The article describes modern genetic and clinical criteria of diagnosis in detail; the specificity of the clinical case and problems emerged during follow-up of the patient, diagnostic errors, and findings. The author proves the importance of a multidisciplinary approach not only in diagnosis but also in the treatment of tuberous sclerosis including neuropsychological approaches.