{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:02:51Z","timestamp":1790352171978,"version":"4.1.0"},"reference-count":15,"publisher":"Scientific Scholar","content-domain":{"domain":["ruralneuropractice.com"],"crossmark-restriction":true},"short-container-title":["JNRP"],"abstract":"<jats:p>The Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare lesion characterized by variable enlargement of cerebellar folia. The pathological basis of LDD has long been debated, as it has overlapping features of both, a neoplasm and hamartoma. Association between LDD and Cowden syndrome (CS) has been established based on the presence of phosphatase and tensin homologue germline mutation in both. We present a series of six cases of LDD: Four females and two males, aged between 16 and 38 years, presenting with headache and imbalance on walking of 1\u20137 months duration. Histomorphology showed thickening and vacuolation of the molecular layer, loss of Purkinje cells, and replacement of granular cell layer by large dysplastic ganglion cells. Awareness of histological features of this rare entity and a higher level of suspicion is required for the correct diagnosis, which, in turn, should prompt thorough investigations to exclude features of associated CS. LDD is a rare entity, awareness of its histological features and correlating them with radiology is essential, especially in tiny biopsies; to render the correct diagnosis. Diagnosis of LDD warrants further clinical workup and close follow-up for the associated features of CS.<\/jats:p>","DOI":"10.25259\/jnrp-2022-3-10","type":"journal-article","created":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T12:11:35Z","timestamp":1672661495000},"page":"127-131","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Lhermitte-Duclos disease: A series of six cases"],"prefix":"10.25259","volume":"14","author":[{"given":"Ashvini Amol","family":"Kolhe","sequence":"first","affiliation":[{"name":"Department of Pathology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha","family":"Shenoy","sequence":"additional","affiliation":[{"name":"Department of Pathology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shubhra","family":"Tayal","sequence":"additional","affiliation":[{"name":"Department of Pathology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naina Atul","family":"Goel","sequence":"additional","affiliation":[{"name":"Department of Pathology, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India,"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2023,1,2]]},"reference":[{"key":"10.25259\/JNRP-2022-3-10\/ref-1","doi-asserted-by":"publisher","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\/JNRP-2022-3-10\/ref-2","first-page":"142","volume-title":"WHO Classification of Tumors of the Central Nervous system","author":"Eberhart","year":"2016","edition":"4th ed"},{"key":"10.25259\/JNRP-2022-3-10\/ref-3","doi-asserted-by":"publisher","first-page":"1191","DOI":"10.1086\/379382","article-title":"Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase\/akt pathway cause human Lhermitte-duclos disease in adults","volume":"73","author":"Zhou","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.25259\/JNRP-2022-3-10\/ref-4","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1007\/BF00304477","article-title":"Immunohistochemistry and proliferative activity in Lhermitteduclos disease","volume":"84","author":"Hair","year":"1992","journal-title":"Acta Neuropathol"},{"key":"10.25259\/JNRP-2022-3-10\/ref-5","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1097\/00005072-196910000-00005","article-title":"Lhermitte-duclos disease (granule cell hypertrophy of the cerebellum) pathological analysis of the first familial cases","volume":"28","author":"Ambler","year":"1969","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.25259\/JNRP-2022-3-10\/ref-6","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1002\/ana.410290511","article-title":"Lhermitte-duclos disease and Cowden disease: A single phakomatosis","volume":"29","author":"Padberg","year":"1991","journal-title":"Ann Neurol"},{"key":"10.25259\/JNRP-2022-3-10\/ref-7","doi-asserted-by":"publisher","first-page":"341","DOI":"10.1093\/jnen\/64.4.341","article-title":"Lhermitte-duclos disease: A report of 31 cases with immunohistochemical analysis of the PTEN\/AKT\/mTOR pathway","volume":"64","author":"Abel","year":"2005","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.25259\/JNRP-2022-3-10\/ref-8","first-page":"92","article-title":"Lhermitte-duclos disease: A rare lesion with variable presentations and obscure","volume":"34","author":"\u00d6nder","year":"2018","journal-title":"Histopathology Turk Patoloji Derg"},{"key":"10.25259\/JNRP-2022-3-10\/ref-9","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1007\/s00701-004-0264-x","article-title":"Lhermitte-duclos disease and Cowden disease: Clinical and genetic study in five patients with LhermitteDuclos disease and literature review","volume":"146","author":"P\u00e9rez-N\u00fa\u00f1ez","year":"2004","journal-title":"Acta Neurochir (Wien)"},{"key":"10.25259\/JNRP-2022-3-10\/ref-10","doi-asserted-by":"publisher","first-page":"E6","DOI":"10.3171\/foc.2006.20.1.7","article-title":"Cowden disease and Lhermitte-duclos disease: An update. 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