{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,13]],"date-time":"2025-06-13T20:45:02Z","timestamp":1749847502837,"version":"3.40.5"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,12]],"date-time":"2020-11-12T00:00:00Z","timestamp":1605139200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109374s0201","19ek0109374s0202","20ek0109374s0203"],"award-info":[{"award-number":["18ek0109374s0201","19ek0109374s0202","20ek0109374s0203"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012628","name":"Japan Epilepsy Research Foundation","doi-asserted-by":"publisher","award":["H25\u2010003"],"award-info":[{"award-number":["H25\u2010003"]}],"id":[{"id":"10.13039\/501100012628","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:p>Tuberous sclerosis complex (TSC) is an autosomal dominant hereditary disorder caused by mutations in either TSC1 on chromosome 16 or <jats:italic>TSC2<\/jats:italic> on chromosome 9, clinically characterized mainly by facial angiofibroma, epilepsy, and intellectual disability. Cortical dysplasias, subependymal nodules, and subependymal giant cell astrocytoma are characteristic central nervous system lesions among 11 major features in the current clinical diagnostic criteria for TSC. We encountered an unusual case of genetically confirmed TSC1 presenting with symptomatic West syndrome due to an isolated cortical dysplasia in the left occipital lobe of a six\u2010month\u2010old male infant who did not meet the clinical diagnostic criteria for TSC. The patient underwent left occipital lesionectomy at age 11\u2009months and has been seizure\u2010free for nearly six\u2009years since then. Histological examination of the resection specimen revealed cortical neuronal dyslamination with abundant dysmorphic neurons and ballooned cells, consistent with focal cortical dysplasia (FCD) type IIb. However, the lesion was also accompanied by unusual features, including marked calcifications, dense fibrillary gliosis containing abundant Rosenthal fibers, CD34\u2010positive glial cells with abundant long processes confined to the dysplastic cortex, and multiple nodular lesions occupying the underlying white matter, consisting exclusively of ballooned cell and\/or balloon\u2010like astrocytes with focal calcifications. Genetic testing for <jats:italic>TSC1<\/jats:italic> and <jats:italic>TSC2<\/jats:italic> using the patient's peripheral blood revealed a germline heterozygous mutation in exon 7 (NM_000368.5: c.526dupT, p.Tyr176fs) in <jats:italic>TSC1<\/jats:italic>. Isolated FCD with unusual features such as calcification, dense fibrillary gliosis, Rosenthal fibers and\/or subependymal nodule\u2010like lesions in the white matter may indicate the possibility of a cortical tuber even without a clinical diagnosis of TSC. Identification of such histopathological findings has significant implications for early and accurate diagnosis and treatment of TSC, and is likely to serve as an important supplementary feature for the current clinical diagnostic criteria for TSC.<\/jats:p>","DOI":"10.1111\/neup.12700","type":"journal-article","created":{"date-parts":[[2020,11,13]],"date-time":"2020-11-13T00:36:48Z","timestamp":1605227808000},"page":"58-64","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome"],"prefix":"10.1111","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2551-5978","authenticated-orcid":false,"given":"Hajime","family":"Miyata","sequence":"first","affiliation":[{"name":"Department of Neuropathology, Research Institute for Brain and Blood Vessels Akita Cerebrospinal and Cardiovascular Center  Akita Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soichiro","family":"Fushimi","sequence":"additional","affiliation":[{"name":"Department of Pathology and Experimental Medicine Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences  Okayama Japan"},{"name":"Department of Pathology Himeji Red Cross Hospital  Himeji Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Ota","sequence":"additional","affiliation":[{"name":"Department of Pathology and Experimental Medicine Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry V.","family":"Vinters","sequence":"additional","affiliation":[{"name":"Department of Pathology &amp; Laboratory Medicine (Neuropathology) and Neurology David Geffen School of Medicine at UCLA  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaori","family":"Adachi","sequence":"additional","affiliation":[{"name":"Research Initiative Center Organization for Research Initiative and Promotion, Tottori University  Yonago Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiji","family":"Nanba","sequence":"additional","affiliation":[{"name":"Research Strategy Division Organization for Research Initiative and Promotion, Tottori University  Yonago Japan"},{"name":"Division of Clinical Genetics Tottori University Hospital  Yonago Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoyuki","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences  Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2002.tb00437.x"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1703784"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02777.x"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20234"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3824"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12463"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2013.08.001"},{"key":"e_1_2_9_11_1","first-page":"79","volume-title":"Pathology & Genetics. 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