Publication details

Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex

Authors

ZAPLETALOVÁ Danica MELICHÁRKOVÁ Kristýna ŠTĚRBA Jaroslav

Year of publication 2016
Type Conference abstract
MU Faculty or unit

Faculty of Medicine

Citation
Description We are presenting the case report of 9 year old boy with tuberous sclerosis complex. Within that he has angiomyolipomas of kidneys, bilateral hamartomas of retina, pharmacoresistant epilepsy, hypothyreosis. 11/2014 he was diagnosed with malignant PEComa in the abdominal cavity with the residual disease after the surgery.