{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T22:59:19Z","timestamp":1790290759886,"version":"4.1.0"},"reference-count":15,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:00:00Z","timestamp":1790294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      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\u00a0mg\/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\u00a0\u03bcmol\/L) and ceruloplasmin (65.0\u00a0mg\/L), along with elevated 24-h urinary copper excretion (218.20 \u03bcg\/24\u00a0h), 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\n                      <jats:italic>ATP7B<\/jats:italic>\n                      variant (NM_000053.4: c.2333G&amp;gt;T; p.Arg778Leu), confirming WD, and an apparently\n                      <jats:italic>de novo<\/jats:italic>\n                      heterozygous pathogenic\n                      <jats:italic>TSC2<\/jats:italic>\n                      frameshift variant (NM_000548.5: c.2816dup; p.Ser939ArgfsTer21). The\n                      <jats:italic>TSC2<\/jats:italic>\n                      variant was absent in both tested parents, but biological parentage was not independently confirmed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      To our knowledge, this is the first reported case of concomitant WD and TSC. Given their distinct genetic etiologies, including a\n                      <jats:italic>de novo<\/jats:italic>\n                      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.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1855858","type":"journal-article","created":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T22:10:17Z","timestamp":1790287817000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Co-occurrence of Wilson disease and tuberous sclerosis complex in a Chinese patient"],"prefix":"10.3389","volume":"17","author":[{"given":"Kun","family":"Xia","sequence":"first","affiliation":[{"name":"Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shijing","family":"Wang","sequence":"additional","affiliation":[{"name":"Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tong","family":"Wu","sequence":"additional","affiliation":[{"name":"Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dandan","family":"Sun","sequence":"additional","affiliation":[{"name":"Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[{"name":"Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xun","family":"Wang","sequence":"additional","affiliation":[{"name":"Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongsheng","family":"Han","sequence":"additional","affiliation":[{"name":"Affiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine","place":["Hefei, Anhui, China"]},{"name":"Wannan Medical University","place":["Wuhu, Anhui, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1139","DOI":"10.1093\/brain\/111.5.1139","article-title":"Wilson's disease and epilepsy","volume":"111","author":"Dening","year":"1988","journal-title":"Brain"},{"key":"B2","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/b978-0-444-63625-6.00013-6","article-title":"Other organ involvement and clinical aspects of Wilson disease","volume":"142","author":"Dzie\u017cyc","year":"2017","journal-title":"Handb. 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