{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T00:27:55Z","timestamp":1768350475354,"version":"3.49.0"},"reference-count":18,"publisher":"Scientific Scholar","content-domain":{"domain":["surgicalneurologyint.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\nBackground: <\/jats:title>\nLhermitte-Duclos Disease (LDD), or dysplastic gangliocytoma, which is a benign hamartomatous condition involving the cerebellum, has a possible association with Cowden syndrome (CS), a rare autosomal dominant disorder due to germline mutations in the phosphatase and tensin homolog (PTEN) tumor-suppressor gene in chromosome 10. Combined CS and LDD cases are rarely reported in the literature.<\/jats:p>\n<\/jats:sec>\n\nCase Description: <\/jats:title>\nWe present here a case of a young female patient presented at the emergency department with a severe headache associated with vertigo, vomiting, and cerebellar ataxia. A magnetic resonance imaging scan revealed mixed intensity posterior fossa lesion with almost preserved cerebellar cortical striations. Her facial skin had extensive trichilemmoma. Her symptoms improved after the excision of the posterior fossa lesion through suboccipital craniotomy and histopathology revealed LDD.<\/jats:p>\n<\/jats:sec>\n\nConclusion: <\/jats:title>\nIn a low-resource country where genetic testing for neurosurgical condition is still inadequate, we used the validated Cleveland Clinic Adult Clinical Scoring for PTEN Testing and the patient had an 82\u201398% chance for a PTEN gene mutation. Finally, she along with her family was adequately counseled and was advised for regular screening and monitoring since it is a premalignant condition where early detection is imperative if any cancer arises in the near future and is now under our follow-up.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/sni_325_2023","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T05:38:41Z","timestamp":1693546721000},"page":"296","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A young female of Cowden syndrome presenting with Lhermitte-Duclos disease: An illustrative case"],"prefix":"10.25259","volume":"14","author":[{"given":"Abdullah","family":"Al-Noman","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mobin Ibne","family":"Mokbul","sequence":"additional","affiliation":[{"name":"Medical Student, Dhaka Medical College Hospital, Dhaka, Bangladesh."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Hossain","sequence":"additional","affiliation":[{"name":"Medical Student, Dhaka Medical College Hospital, Dhaka, Bangladesh."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md. Sumon","family":"Rana","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md. Motasimul","family":"Hasan","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Md. Shafiqul","family":"Islam","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Dhaka Medical College Hospital, Dhaka, Bangladesh."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2023,8,25]]},"reference":[{"key":"10.25259\/SNI_325_2023\/ref-1","article-title":"Pediatric Neuroimaging","author":"Barkovich","year":"2005"},{"key":"10.25259\/SNI_325_2023\/ref-2","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1136\/jmedgenet-2012-101339","article-title":"High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome","volume":"50","author":"Bubien","year":"2013","journal-title":"J Med Genet"},{"key":"10.25259\/SNI_325_2023\/ref-3","first-page":"1","article-title":"Coexisting MS and Lhermitte-Duclos disease","volume":"4","author":"Casperson","year":"2010","journal-title":"J Radiol Case Rep"},{"key":"10.25259\/SNI_325_2023\/ref-4","doi-asserted-by":"crossref","first-page":"77","DOI":"10.6004\/jnccn.2021.0001","article-title":"Genetic\/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021, NCCN clinical practice guidelines in oncology","volume":"19","author":"Daly","year":"2021","journal-title":"J Natl Compr Canc Netw"},{"key":"10.25259\/SNI_325_2023\/ref-5","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.ctrv.2010.04.002","article-title":"Cowden syndrome","volume":"36","author":"Farooq","year":"2010","journal-title":"Cancer Treat Rev"},{"key":"10.25259\/SNI_325_2023\/ref-6","doi-asserted-by":"crossref","first-page":"bcr2016217974","DOI":"10.1136\/bcr-2016-217974","article-title":"Lhermitte-Duclos disease associated to Cowden syndrome: De novo diagnosis and management of these extremely rare syndromes in a patient","volume":"2017","author":"Gama","year":"2017","journal-title":"BMJ Case Rep"},{"key":"10.25259\/SNI_325_2023\/ref-7","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1177\/197140091302600608","article-title":"Lhermitte-Duclos disease. A case report","volume":"26","author":"Giorgianni","year":"2013","journal-title":"Neuroradiol J"},{"key":"10.25259\/SNI_325_2023\/ref-8","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1053\/j.seminoncol.2007.07.009","article-title":"Cowden syndrome","volume":"34","author":"Gustafson","year":"2007","journal-title":"Semin Oncol"},{"key":"10.25259\/SNI_325_2023\/ref-9","doi-asserted-by":"crossref","first-page":"1","DOI":"10.3941\/jrcr.v14i3.3814","article-title":"Radiographic findings of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) in a woman with Cowden syndrome: A case study and literature review","volume":"14","author":"Joo","year":"2020","journal-title":"J Radiol Case Rep"},{"key":"10.25259\/SNI_325_2023\/ref-10","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1212\/WNL.48.3.725","article-title":"MRI in Lhermitte-Duclos disease","volume":"48","author":"Kulkantrakorn","year":"1997","journal-title":"Neurology"},{"key":"10.25259\/SNI_325_2023\/ref-11","first-page":"99","article-title":"On a diffuse ganglioneuroma of the cerebellar cortex","volume":"9","author":"Lhermitte","year":"1920","journal-title":"Bull Assoc Fr Etud Cancer"},{"key":"10.25259\/SNI_325_2023\/ref-12","doi-asserted-by":"crossref","first-page":"8","DOI":"10.3315\/jdcr.2011.1063","article-title":"Cowden syndrome","volume":"5","author":"Masmoudi","year":"2011","journal-title":"J Dermatol Case Rep"},{"key":"10.25259\/SNI_325_2023\/ref-13","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1034\/j.1600-0404.2002.1r127.x","article-title":"Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): A malformation, hamartoma or neoplasm?","volume":"105","author":"Nowak","year":"2002","journal-title":"Acta Neurol Scand"},{"key":"10.25259\/SNI_325_2023\/ref-14","doi-asserted-by":"crossref","first-page":"1004","DOI":"10.1038\/gim.2013.51","article-title":"A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing","volume":"15","author":"Pritchard","year":"2013","journal-title":"Genet Med"},{"key":"10.25259\/SNI_325_2023\/ref-15","doi-asserted-by":"crossref","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","article-title":"DNA sequencing with chain-terminating inhibitors","volume":"74","author":"Sanger","year":"1977","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.25259\/SNI_325_2023\/ref-16","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.ajhg.2010.11.013","article-title":"A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands","volume":"88","author":"Tan","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.25259\/SNI_325_2023\/ref-17","article-title":"PTEN Hamartoma tumor syndrome","volume-title":"GeneReviews\u00ae","author":"Yehia","year":"2001"},{"key":"10.25259\/SNI_325_2023\/ref-18","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1172\/JCI121277","article-title":"PTEN-opathies: From biological insights to evidence-based precision medicine","volume":"129","author":"Yehia","year":"2019","journal-title":"J Clin Invest"}],"container-title":["Surgical Neurology International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/surgicalneurologyint.com\/a-young-female-of-cowden-syndrome-presenting-with-lhermitte-duclos-disease-an-illustrative-case\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/a-young-female-of-cowden-syndrome-presenting-with-lhermitte-duclos-disease-an-illustrative-case\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T05:38:50Z","timestamp":1693546730000},"score":1,"resource":{"primary":{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/a-young-female-of-cowden-syndrome-presenting-with-lhermitte-duclos-disease-an-illustrative-case\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,25]]},"references-count":18,"alternative-id":["10.25259\/SNI_325_2023"],"URL":"https:\/\/doi.org\/10.25259\/sni_325_2023","relation":{},"ISSN":["2152-7806","2229-5097"],"issn-type":[{"value":"2152-7806","type":"electronic"},{"value":"2229-5097","type":"print"}],"subject":[],"published":{"date-parts":[[2023,8,25]]},"article-number":"296"}}