Tuberous Sclerosis Complex: Rare Disease with Significant Social Impact (Case Series)

Abstract

The disease called the tuberous sclerosis complex has, besides its medical impact, also a significant social impact. It negatively affects the quality of life not only of the affected patients but also of their families, as this disease also occurs in a familial form. The social aspects of this disease are also reflected in the need to create specific conditions for the upbringing, education and care of the patients suffering from the tuberous sclerosis complex. In clinical practice we only rarely come upon patients affected by the tuberous sclerosis complex. Therefore, the experience in the diagnostics and management of these patients is quite limited. Diagnostics of the tuberous sclerosis complex is more difficult due to the fact that subjective symptoms and objective signs are not specific for the tuberous sclerosis complex, but can be the signs of other diseases. Tuberous sclerosis complex is an autosomal dominant hereditary disease that is the result of mutations of two tumor suppressor genes and is characterized by the formation of benign tumors, hamartomas, in several organ systems. In about 80% of cases the mutations are acquired, the cause of mutation is unknown. Autosomal dominant gene mutations are the cause of about 20% of cases of tuberous sclerosis complex, and affliction of more family members is found. Most commonly, in patients with tuberous sclerosis, neurological and psychiatric symptoms are present in the central nervous system. Renal hamartomas are called angiomyolipomas. After neurological and skin changes, renal angiomyolipomas are ranked third in the incidence rate in patients with tuberous sclerosis. The authors analyze their own clinical experience with the diagnostics and treatment of children and adult patients with the tuberous sclerosis complex. The study includes 14 children (8 girls and 6 boys aged 7 to 15 years) and 12 adult patients (9 women and 3 males aged 17 to 42 years). The girls and women predominated (66.7%) over male patients (33.3%). All patients were polysymptomatic, symptomatology was highly complex and polymorphic. In every patient the signs of simultaneous affliction of at least two organ systems were found. There was no common symptom to all patients, and no symptom was absolutely pathognomonic for the tuberous sclerosis complex. Neurological symptomatology was the dominant finding in children. Very significant is the recognition that affliction of the brain resulted in almost all children, besides topical symptomatology, also in epilepsy, intellectual impairment disorders in the form of mental retardation of various degrees and autism. In adult patients, affliction of the kidneys by angiomyolipomas was the predominant form of the tuberous sclerosis complex. In most of them simultaneous signs of affected skin and nails was observed. Since virtually in all cases of impairment of the brain, kidneys and also of the heart, the disease is life-threatening and surgically incurable, it is reasonable to consider the alternative treatment by administration of an inhibitor of the mTOR signaling pathway.