Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex.
David M RitterBailey K FesslerDaniel Ebrahimi-FakhariJun WeiDavid N FranzDarcy A KruegerAndrew T TroutAlexander J TowbinPublished in: Orphanet journal of rare diseases (2022)
These results show that regular thoracoabdominal scans in TSC may show several findings that should not be ignored or, conversely, over-reacted to when found in patients with TSC. Female sex, TSC2 mutation, and age are risk factors for many thoracoabdominal findings. The data suggest novel interactions of genetic mutation with pulmonary nodules and age with renal cysts. Finally, in agreement with other works, these findings indicate that several rare thoracoabdominal imaging findings occur at higher rates in the TSC population than in the general population. This work supports obtaining detailed thoracoabdominal imaging in patients with TSC.