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

A 28-year-old Chinese woman was diagnosed with both Wilson disease and tuberous sclerosis complex, marking the first reported case of their co-occurrence.

• Why it matters: Understanding rare genetic disorder combinations is crucial for accurate diagnosis and management, especially when atypical clinical features emerge in patients with known conditions.
• What they did: The case involved comprehensive physical examination, laboratory tests, imaging, and whole-exome sequencing, which identified homozygous ATP7B and de novo heterozygous TSC2 variants.
• The result: This case underscores the importance of reassessment and expanded genetic testing in atypical disease courses, supporting the interpretation of the co-occurrence as an independent dual diagnosis.