Lina Kudinavičiūtė1, Karolina Meyer2, Kamilė Žilinskienė3
1Tarandes family clinic, Vilnius, Lithuania
2Lithuanian University of Health Sciences, Academy of Medicine, Faculty of Medicine, Kaunas, Lithuania
3Lithuanian University of Health Sciences, Academy of Medicine, Faculty of Medicine, Kaunas, Lithuania
Abstract: Tuberose sclerosis complex (TSC) is an inherited disorder that damages multiple organ systems like brain, heart, kidneys etc. It manifests with a variety of benign tumors in different organs, most of the patients develop at least one or more skin lesions. The disease is caused by a mutation in TSC1 or TSC2 genes. Epilepsy is one of the main causes of morbidity. TSC has no specific treatment. Every patient must be monitored closely upon diagnosis and follow long-term monitoring recommendations. We present the case of a 2-year-old patient with the diagnosis of TSC whose symptoms started with several attacks of involuntary muscle movements in his arms and legs.
Key words: tuberose sclerosis complex, genetic, seizures, epilepsy