Renal Cell Carcinoma in a Girl With Tuberous Sclerosis Due to a New Mutation

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder inherited in autosomal dominant manner. It is characterized by multisystem involvement due to the formation of hamartomas in different organs. TSC2 gene mutations are the most common cause of the disease and are associated with more severe neurological symptoms compared to TSC1 gene mutations. However, in our case, we are reporting a rare mutation detected at the flanking splice site of exon 37 in the TSC2 gene in a 2-year-5-month-old girl. She presented to the emergency department at the age of 1 month with generalized abnormal body movements. A review of genetic databases revealed no prior reports of this gene in the literature. Her diagnosis was confirmed by gene panel for TCS. Later, she developed renal cell carcinoma. Such cases are managed by a multidisciplinary team including a pediatrician, a pediatric neurologist, a pediatric cardiologist, a pediatric hematology-oncology specialist, and specialist in pediatric surgery. The overall prognosis of children with TSC is variable and dependent on the severity of symptoms, especially neurologic manifestations.