{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T05:00:02Z","timestamp":1790312402913,"version":"4.1.0"},"reference-count":39,"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. Oncol."],"abstract":"<jats:p>\n                    Lhermitte\u2013Duclos Disease is a rare, benign cerebellar tumour that is a manifestation of Cowden Syndrome, a hereditary tumour predisposition syndrome caused by germline mutations in the\n                    <jats:italic>PTEN<\/jats:italic>\n                    gene. Here, we report a 38-year-old female patient with no past medical history or family neurological history presenting to hospital with a new, unprovoked, bilateral tonic-clonic seizure with no apparent seizure focus. EEG showed no epileptiform activity, and 7T MRI demonstrated bilateral Lhermitte\u2013Duclos Disease as well as several cortical meningoencephaloceles. Her seizures were controlled with levetiracetam, and given her cerebellar lesion was minimally symptomatic, no further interventions were pursued.\n                    <jats:italic>PTEN<\/jats:italic>\n                    germline testing identified a heterozygous c.1003C&amp;gt;T (p.Arg335*) variant known to be pathogenic for Cowden Syndrome, and we promptly referred this patient for cancer screening. She was diagnosed with ductal carcinoma\n                    <jats:italic>in situ<\/jats:italic>\n                    and thyroid atypia of undetermined significance, and she subsequently underwent bilateral mastectomy and total thyroidectomy respectively. Lhermitte\u2013Duclos Disease and Cowden Syndrome may present initially in previously healthy patients with bilateral tonic-clonic seizures without clear epileptogenic foci. Recognition of the underlying hereditary cancer syndrome enables timely cancer detection, potentially improving treatment outcomes.\n                  <\/jats:p>","DOI":"10.3389\/fonc.2026.1950323","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T04:27:17Z","timestamp":1790310437000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Bilateral tonic-clonic seizures as initial presentation of Lhermitte\u2013Duclos Disease and Cowden Syndrome"],"prefix":"10.3389","volume":"16","author":[{"given":"Winston Tse-Hou","family":"Kwok","sequence":"first","affiliation":[{"name":"Schulich School of Medicine and Dentistry, Western University","place":["London, ON, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inci","family":"Yaman Bajin","sequence":"additional","affiliation":[{"name":"Department of Oncology, Western University","place":["London, ON, Canada"]},{"name":"London Health Sciences Centre","place":["London, ON, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth Andrew","family":"Climans","sequence":"additional","affiliation":[{"name":"Department of Oncology, Western University","place":["London, ON, Canada"]},{"name":"London Health Sciences Centre","place":["London, ON, Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2002.1r127.x","article-title":"Lhermitte\u2013Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm","volume":"105","author":"Nowak","year":"2002","journal-title":"Acta Neurol Scand"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.25259\/JNRP-2022-3-10","article-title":"Lhermitte-Duclos disease: a series of six cases","volume":"14","author":"Kolhe","year":"2023","journal-title":"J 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