Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient.

Background: Wilson disease (WD) and tuberous sclerosis complex (TSC) are rare genetic disorders with distinct pathophysiologies. Their co-occurrence has not been previously reported. When atypical clinical features emerge in a patient with an established genetic diagnosis, comprehensive reassessment, including thorough physical examination and expanded genetic testing, becomes critical. Case Presentation: We describe a 28-year-old Chinese woman with a confirmed diagnosis of WD who developed focal seizures after substantial clinical improvement during copper chelation therapy. Her seizures were controlled with carbamazepine (600 mg/day), but repeated attempts to withdraw carbamazepine led to seizure recurrence, prompting diagnostic reassessment. Physical examination revealed characteristic TSC stigmata, including facial angiofibromas, periungual fibromas, a shagreen patch, and hypomelanotic macules. Laboratory evaluation demonstrated markedly low serum copper (1.38 μmol/L) and ceruloplasmin (65.0 mg/L), along with elevated 24-h urinary copper excretion (218.20 μg/24 h), measured during penicillamine treatment. 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 Conclusion: To our knowledge, this is the first reported case of concomitant WD and TSC. Given their distinct genetic etiologies, including a