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<meta name="keywords" content="C0391826, cerebellum dysplastic gangliocytoma, cerebellum dysplastic gangliocytomas, dysplastic cerebellar gangliocytoma, dysplastic cerebellar gangliocytoma (lhermitte-duclos disease), dysplastic gangliocytoma of cerebellum, dysplastic gangliocytoma of cerebellum (lhermitte-duclos), dysplastic gangliocytoma of the cerebellum, ldd, lhermitte duclos disease, lhermitte-duclos disease, lhermitte-duclos syndrome, neoplastic process, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Lhermitte-Duclos disease (Concept Id: C0391826)
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<!--
UID=140251
ConceptID=C0391826
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Lhermitte-Duclos disease<span class="h1sub">(LDD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140251</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0391826</a></dd><dt><span class="dotprefix"></span></dt><dd>Neoplastic Process</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Dysplastic gangliocytoma of the cerebellum; Lhermitte-Duclos syndrome</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Lhermitte-Duclos disease (67944007); Dysplastic cerebellar gangliocytoma (67944007); Dysplastic gangliocytoma of cerebellum (Lhermitte-Duclos) (128791005)</td></tr>
<tr><td>Modes of inheritance:</td>
<td>
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0443147</a></dd><dt><span class="dotprefix"></span></dt><dd>Intellectual Product</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms&#10;that cannot be identified in NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">CN307044</a></dd><dt><span class="dotprefix"></span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Source: Orphanet</div>
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0500009">HP:0500009</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0019002" target="_blank">MONDO:0019002</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/158350" target="_blank">158350</a>; <a href="https://omim.org/entry/601728" target="_blank">601728</a></td></tr>
<tr><td>Orphanet:</td>
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&amp;Expert=65285">ORPHA65285</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0391826[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=140251">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=140251" target="_blank" href="/omim/158350">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=140251" ref="ncbi_uid=140251">V</a></span></span><span class="TLline">Lhermitte-Duclos disease</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868416" ref="tree=MeSH" title="MedGen record for Abnormal nervous system morphology">Abnormal nervous system morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892343" ref="tree=MeSH" title="MedGen record for Morphological central nervous system abnormality">Morphological central nervous system abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/866738" ref="tree=MeSH" title="MedGen record for Abnormal brain morphology">Abnormal brain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/866816" ref="tree=MeSH" title="MedGen record for Abnormal hindbrain morphology">Abnormal hindbrain morphology</a></span><ul><li><span class="TLline"><a href="/medgen/869015" ref="tree=MeSH" title="MedGen record for Abnormal metencephalon morphology">Abnormal metencephalon morphology</a></span><ul><li><span class="TLline"><a href="/medgen/400925" ref="tree=MeSH" title="MedGen record for Abnormal cerebellum morphology">Abnormal cerebellum morphology</a></span><ul><li><span class="matched_ds">Lhermitte-Duclos disease</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_331813"><div><strong>Cerebelloparenchymal Disorder VI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331813</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1834711</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/331813">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_767431"><div><strong>Cowden syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767431</dd><dt><span class="dotprefix"></span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3554517</a></dd><dt><span class="dotprefix"></span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/767431">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebelloparenchymal Disorder VI</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767431" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cowden syndrome 4</a></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/23934601">Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nieuwenhuis MH,
Kets CM,
Murphy-Ryan M,
Yntema HG,
Evans DG,
Colas C,
Møller P,
Hes FJ,
Hodgson SV,
Olderode-Berends MJ,
Aretz S,
Heinimann K,
Gómez García EB,
Douglas F,
Spigelman A,
Timshel S,
Lindor NM,
Vasen HF</span><br />
<span class="medgenPMjournal">Fam Cancer</span>
2014 Mar;13(1):57-63.
doi: 10.1007/s10689-013-9674-3.
<span class="bold">PMID: </span><a href="/pubmed/23934601" target="_blank">23934601</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10234502">Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nelen MR,
Kremer H,
Konings IB,
Schoute F,
van Essen AJ,
Koch R,
Woods CG,
Fryns JP,
Hamel B,
Hoefsloot LH,
Peeters EA,
Padberg GW</span><br />
<span class="medgenPMjournal">Eur J Hum Genet</span>
1999 Apr;7(3):267-73.
doi: 10.1038/sj.ejhg.5200289.
<span class="bold">PMID: </span><a href="/pubmed/10234502" target="_blank">10234502</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22lhermitte-duclos%20disease%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div></div>
</div>
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38504418">Cerebellar phenotypes in germline PTEN mutation carriers.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Gambini D,
Ferrero S,
Bulfamante G,
Pisani L,
Corbo M,
Kuhn E</span><br />
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
2024 Apr;50(2):e12970.
doi: 10.1111/nan.12970.
<span class="bold">PMID: </span><a href="/pubmed/38504418" target="_blank">38504418</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36182334">Diverse imaging findings of Lhermitte-Duclos disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Han C,
Zhang Y,
Ran C,
Luo Y,
Li W</span><br />
<span class="medgenPMjournal">Clin Radiol</span>
2023 Jan;78(1):33-39.
Epub 2022 Sep 29
doi: 10.1016/j.crad.2022.08.134.
<span class="bold">PMID: </span><a href="/pubmed/36182334" target="_blank">36182334</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31927175">Imaging of PTEN-related abnormalities in the central nervous system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dhamija R,
Hoxworth JM</span><br />
<span class="medgenPMjournal">Clin Imaging</span>
2020 Apr;60(2):180-185.
Epub 2019 Dec 24
doi: 10.1016/j.clinimag.2019.12.006.
<span class="bold">PMID: </span><a href="/pubmed/31927175" target="_blank">31927175</a></div>
<div class="nl"><a target="_blank" href="/pubmed/30153148">Increased 18F-FDG Uptake in Lhermitte-Duclos Disease With Cowden Syndrome Revealed by PET-MRI.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Piekarski E,
Pyatigorskaya N,
Dormont D,
Galanaud D,
Kas A</span><br />
<span class="medgenPMjournal">Clin Nucl Med</span>
2018 Oct;43(10):e355-e356.
doi: 10.1097/RLU.0000000000002248.
<span class="bold">PMID: </span><a href="/pubmed/30153148" target="_blank">30153148</a></div>
<div class="nl"><a target="_blank" href="/pubmed/10586343">Cowden disease and Lhermitte Duclos disease, markers of breast carcinoma: report of two patients.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Braud AC,
de Rocquancourt A,
Marty M,
Espie M</span><br />
<span class="medgenPMjournal">Ann Oncol</span>
1999 Oct;10(10):1241-3.
doi: 10.1023/a:1008317923860.
<span class="bold">PMID: </span><a href="/pubmed/10586343" target="_blank">10586343</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lhermitte-Duclos%20disease%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (43)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35089210">MR imaging features of Lhermitte-Duclos disease: Case reports and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang HW,
Zhang YQ,
Liu XL,
Mo YQ,
Lei Y,
Lin F,
Feng YN</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2022 Jan 28;101(4):e28667.
doi: 10.1097/MD.0000000000028667.
<span class="bold">PMID: </span><a href="/pubmed/35089210" target="_blank">35089210</a><a href="/pmc/articles/PMC8797601" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26880827">Lhermitte-Duclos disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Biswas SN,
Chakraborty PP,
Patra S</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2016 Feb 15;2016
doi: 10.1136/bcr-2015-214235.
<span class="bold">PMID: </span><a href="/pubmed/26880827" target="_blank">26880827</a><a href="/pmc/articles/PMC5483583" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25223136">Lhermitte-Duclos disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Van Lieshout A,
Gielens MP,
Noordveld RB</span><br />
<span class="medgenPMjournal">JBR-BTR</span>
2014 May-Jun;97(3):178-9.
doi: 10.5334/jbr-btr.74.
<span class="bold">PMID: </span><a href="/pubmed/25223136" target="_blank">25223136</a></div>
<div class="nl"><a target="_blank" href="/pubmed/20185464">Neurological picture. Lhermitte-Duclos disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Qian LJ,
Xu JR,
Zheng LY</span><br />
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
2010 Mar;81(3):255-6.
doi: 10.1136/jnnp.2009.182808.
<span class="bold">PMID: </span><a href="/pubmed/20185464" target="_blank">20185464</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9330535">Recurrent Lhermitte-Duclos disease--case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto H,
Iida J,
Masui K,
Nishi N,
Sakaki T</span><br />
<span class="medgenPMjournal">Neurol Med Chir (Tokyo)</span>
1997 Sep;37(9):692-6.
doi: 10.2176/nmc.37.692.
<span class="bold">PMID: </span><a href="/pubmed/9330535" target="_blank">9330535</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lhermitte-Duclos%20disease%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (159)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/28938107">Lhermitte-Duclos disease: Clinical study with long-term follow-up in a single institution.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Q,
Zhang S,
Cheng J,
Liu W,
Hui X</span><br />
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
2017 Nov;162:53-58.
Epub 2017 Sep 9
doi: 10.1016/j.clineuro.2017.09.007.
<span class="bold">PMID: </span><a href="/pubmed/28938107" target="_blank">28938107</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27932596">Infantile Lhermitte-Duclos Disease Treated Successfully With Rapamycin.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zak M,
Ledbetter M,
Maertens P</span><br />
<span class="medgenPMjournal">J Child Neurol</span>
2017 Mar;32(3):322-326.
Epub 2016 Dec 8
doi: 10.1177/0883073816681340.
<span class="bold">PMID: </span><a href="/pubmed/27932596" target="_blank">27932596</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22675060">Lhermitte-Duclos and Cowden diseases: breast cancer as an unusual initial presentation of these overlapping conditions.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Walsh S,
Carter M,
Tubridy N,
McDermott EW</span><br />
<span class="medgenPMjournal">BMJ Case Rep</span>
2011 Oct 20;2011
doi: 10.1136/bcr.08.2011.4730.
<span class="bold">PMID: </span><a href="/pubmed/22675060" target="_blank">22675060</a><a href="/pmc/articles/PMC3207787" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17503347">Mammalian target of rapamycin: master regulator of cell growth in the nervous system.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sandsmark DK,
Pelletier C,
Weber JD,
Gutmann DH</span><br />
<span class="medgenPMjournal">Histol Histopathol</span>
2007 Aug;22(8):895-903.
doi: 10.14670/HH-22.895.
<span class="bold">PMID: </span><a href="/pubmed/17503347" target="_blank">17503347</a></div>
<div class="nl"><a target="_blank" href="/pubmed/16934474">Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease).</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Prestor B</span><br />
<span class="medgenPMjournal">J Clin Neurosci</span>
2006 Oct;13(8):877-81.
Epub 2006 Aug 24
doi: 10.1016/j.jocn.2005.07.018.
<span class="bold">PMID: </span><a href="/pubmed/16934474" target="_blank">16934474</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lhermitte-Duclos%20disease%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (5)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/29625313">An Unusual Case of Lhermitte-Duclos Disease Manifesting with Intratumoral Hemorrhage.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Uchida D,
Nakatogawa H,
Inenaga C,
Tanaka T</span><br />
<span class="medgenPMjournal">World Neurosurg</span>
2018 Jun;114:326-329.
Epub 2018 Apr 3
doi: 10.1016/j.wneu.2018.03.184.
<span class="bold">PMID: </span><a href="/pubmed/29625313" target="_blank">29625313</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26261673">Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huang S,
Zhang G,
Zhang J</span><br />
<span class="medgenPMjournal">Int J Clin Exp Pathol</span>
2015;8(6):7583-7.
Epub 2015 Jun 1
<span class="bold">PMID: </span><a href="/pubmed/26261673" target="_blank">26261673</a><a href="/pmc/articles/PMC4526007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/21553317">Atypical adult medulloblastoma.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Behbahani M,
St George EJ,
Dunn LT,
Hadley DM,
Stewart W</span><br />
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
2011 Jul;153(7):1511-7; discussion 1517.
Epub 2011 May 9
doi: 10.1007/s00701-011-1040-3.
<span class="bold">PMID: </span><a href="/pubmed/21553317" target="_blank">21553317</a></div>
<div class="nl"><a target="_blank" href="/pubmed/17221273">Lhermitte-Duclos disease.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar R,
Vaid VK,
Kalra SK</span><br />
<span class="medgenPMjournal">Childs Nerv Syst</span>
2007 Jul;23(7):729-32.
Epub 2007 Jan 13
doi: 10.1007/s00381-006-0271-8.
<span class="bold">PMID: </span><a href="/pubmed/17221273" target="_blank">17221273</a></div>
<div class="nl"><a target="_blank" href="/pubmed/8584006">Uncommon brain tumors.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Schiff D,
Wen PY</span><br />
<span class="medgenPMjournal">Neurol Clin</span>
1995 Nov;13(4):953-74.
<span class="bold">PMID: </span><a href="/pubmed/8584006" target="_blank">8584006</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lhermitte-Duclos%20disease%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (39)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/38337148">Giant cell collagenomas associated with Cowden syndrome: A case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Salusti-Simpson M,
Madrid M,
Cook D</span><br />
<span class="medgenPMjournal">J Cutan Pathol</span>
2024 May;51(5):345-347.
Epub 2024 Feb 9
doi: 10.1111/cup.14595.
<span class="bold">PMID: </span><a href="/pubmed/38337148" target="_blank">38337148</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26261673">Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Huang S,
Zhang G,
Zhang J</span><br />
<span class="medgenPMjournal">Int J Clin Exp Pathol</span>
2015;8(6):7583-7.
Epub 2015 Jun 1
<span class="bold">PMID: </span><a href="/pubmed/26261673" target="_blank">26261673</a><a href="/pmc/articles/PMC4526007" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/15835270">Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Abel TW,
Baker SJ,
Fraser MM,
Tihan T,
Nelson JS,
Yachnis AT,
Bouffard JP,
Mena H,
Burger PC,
Eberhart CG</span><br />
<span class="medgenPMjournal">J Neuropathol Exp Neurol</span>
2005 Apr;64(4):341-9.
doi: 10.1093/jnen/64.4.341.
<span class="bold">PMID: </span><a href="/pubmed/15835270" target="_blank">15835270</a></div>
<div class="nl"><a target="_blank" href="/pubmed/11597654">Lhermitte-Duclos disease is a clinical manifestation of Cowden's syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vantomme N,
Van Calenbergh F,
Goffin J,
Sciot R,
Demaerel P,
Plets C</span><br />
<span class="medgenPMjournal">Surg Neurol</span>
2001 Sep;56(3):201-4; discussion 204-5.
doi: 10.1016/s0090-3019(01)00552-3.
<span class="bold">PMID: </span><a href="/pubmed/11597654" target="_blank">11597654</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9330535">Recurrent Lhermitte-Duclos disease--case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hashimoto H,
Iida J,
Masui K,
Nishi N,
Sakaki T</span><br />
<span class="medgenPMjournal">Neurol Med Chir (Tokyo)</span>
1997 Sep;37(9):692-6.
doi: 10.2176/nmc.37.692.
<span class="bold">PMID: </span><a href="/pubmed/9330535" target="_blank">9330535</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Lhermitte-Duclos%20disease%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0391826%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
<li><a href="/gtr/tests?term=C0391826%5bDISCUI%5d&amp;filter=method%3A3%5F23" target="_blank">FISH-interphase (1)</a></li>
<li><a href="/gtr/tests?term=C0391826%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (6)</a></li>
<li><a href="/gtr/tests?term=C0391826%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0391826%5bDISCUI%5d" target="_blank">See all (9)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=65285" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Lhermitte-Duclos%20disease" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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