Data Sheet 1_Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient.pdf

Imaging showed nodular liver changes, a left renal hamartomatous lesion, bilateral basal ganglia abnormalities, a probable cortical tuber, and subependymal nodules. In January 2025, whole-exome sequencing identified a homozygous pathogenic ATP7B variant (NM_000053.4: c.2333G>T; p.Arg778Leu), confirming WD, and an apparently de novo heterozygous pathogenic TSC2 frameshift variant (NM_000548.5: c.2816dup; p.Ser939ArgfsTer21).

The TSC2 variant was absent in both tested parents, but biological parentage was not independently confirmed.</p>Conclusion<p>To our knowledge, this is the first reported case of concomitant WD and TSC. Given their distinct genetic etiologies, including a de novo TSC2 variant in this patient, the co-occurrence is most appropriately interpreted as an exceptionally rare independent dual diagnosis rather than evidence of a biological link.

The case highlights diagnostic overshadowing and the importance of renewed physical examination and expanded genetic testing when the clinical course becomes atypical for an established disorder.</p>