Przypadki kliniczne: stwardnienie guzowate u noworodków – interdyscyplinarna jednostka chorobowa

Katarzyna Piotrowska¹, Piotr Przymuszała¹, Bartłomiej Mroziński², *Katarzyna Jończyk-Potoczna¹

Summary
Tuberous sclerosis is a rare genetic disease caused by inappropriate differentiation and proliferation of the stem cells, which results in the growth of the hamartomatic tumors in various locations in human body. These may include tumors of the brain, kidneys, heart, skin or eyes, but no pathognomonic sign have yet been found and what is more individual patients may present different combinations of the signs mentioned above. Moreover, these signs may develop in patients at any age, yet some of them, like the rhabdomyomas observed in young children, show strong tendencies to develop on certain stages of the patient’s life. Authors present two clinical cases of the newborns diagnosed with the tuberous sclerosis based on the presence of multiple tumors in their hearts in the cardiac echo and multiple subependymal nodules and subcortical tubers in the magnetic resonance imaging of the central nervous system. In the 24 hours of the Holter monitoring both of the presented newborns presented cardiac arrhythmias, which were successfully treated. Based on the cases described in this article, authors pay attention to the diversity of the symptoms, depending on the organ affected and the age of the final diagnosis, and in turn on the interdisciplinary character of the disease.

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