A Doença de Lhermitte-Duclos (DLD) é uma condição muito rara caracterizada pelo desenvolvimento e crescimento anormais do cerebelo, e por um aumento da pressão dentro da cabeça (pressão intracraniana).
Introdução
O que você precisa saber de cara
A Doença de Lhermitte-Duclos (DLD) é uma condição muito rara caracterizada pelo desenvolvimento e crescimento anormais do cerebelo, e por um aumento da pressão dentro da cabeça (pressão intracraniana).
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins (PubMed:9187108, PubMed:9256433, PubMed:9616126). Also functions as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring of PtdIns(3,4,5)P3/phosphatidylinositol 3,4,5-trisphosphate, PtdIns(3,4)P2/phosphatidylinositol 3,4-diphosphate and PtdIns3P/phosphatidylinositol 3-phosphate with a preference for PtdIns(3,4,5)P3 (PubMed:16824732, PubMed:26504226, PubM
CytoplasmNucleusNucleus, PML bodyCell projection, dendritic spinePostsynaptic densitySecreted
Cowden syndrome 1
An autosomal dominant hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid.
Variantes genéticas (ClinVar)
1,957 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença Lhermitte-Duclos
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
1 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Recurrent multiloculated cystic variant of Lhermitte-Duclos disease managed with cyst fenestration and Ommaya reservoir placement: illustrative case.
Lhermitte-Duclos disease (LDD), or dysplastic gangliocytoma of the cerebellum, is a rare benign lesion typically characterized by slow growth and absence of cystic changes. Cyst formation in LDD is distinctly uncommon, and detailed clinical courses of such cases are rarely documented. The authors describe a case of a young male with multiloculated cystic LDD in the right cerebellar hemisphere. The lesion recurred with progressive cyst enlargement, ultimately causing brainstem compression. Despite multiple resections and fenestrations, histopathological analysis consistently revealed characteristic features of LDD, including thickened cerebellar folia with reduced Purkinje and granular cells, dysplastic neurons, and a very low Ki-67 index (≤ 1%). Final management, including cyst fenestration and placement of an Ommaya reservoir, successfully restored CSF communication, preventing further enlargement and stabilizing neurological symptoms. Although LDD generally follows a benign course, multiloculated cystic variants can present with progressive recurrence and neurological deterioration. This case emphasizes the importance of recognizing cystic changes in LDD and demonstrates that adequate fenestration with communication to cisternal spaces, supplemented by Ommaya reservoir placement when necessary, can provide durable disease control. https://thejns.org/doi/10.3171/CASE25907.
Cowden Syndrome: Imaging Review and Cancer Surveillance.
Cowden syndrome (CS) is a rare autosomal-dominant inherited variant of PTEN (phosphatase and tensin homolog gene) hamartoma tumor syndrome caused by mutations to the PTEN tumor suppressor gene, leading to activation of the PI3K/AKT/mTOR intracellular signaling pathway. Patients with this syndrome present with multisystem hamartomatous lesions and are particularly predisposed to developing malignancies, including breast, thyroid, renal, endometrial, and colorectal malignancies. Mucocutaneous lesions, especially trichilemmomas, and macrocephaly are commonly seen in the 2nd decade of life and usually manifest before the development of malignancies. In children, clinical manifestations such as intellectual disability and gastrointestinal polyps may arise and may prompt early investigation and diagnosis. Major features of CS include Lhermitte-Duclos disease, breast cancer, endometrial cancer, thyroid carcinoma, macrocephaly, and gastrointestinal hamartomas. Other features that are considered part of the minor clinical diagnostic criteria include colorectal cancer, esophageal glycogenic acanthosis, lipomas, renal cell carcinoma, testicular lipomatosis, and vascular anomalies. Comprehensive evaluation including clinical and genetic assessment and imaging is essential for early diagnosis and management. Given the increased risk of developing malignancies, surveillance strategies have been routinely updated and recommended by the National Comprehensive Cancer Network. Important cancer surveillance imaging strategies include mammography, MRI of the breast, and US of the thyroid and kidneys, although other manifestations are routinely assessed with CT and MRI. In this article, the genetics and molecular pathogenesis, clinical manifestations, imaging features, and most up-to-date surveillance recommendations of CS are reviewed. ©RSNA, 2026 Supplemental material is available for this article.
Atypical presentation of acute cerebellar infarct as Lhermitte-Duclos disease.
Cerebellar infarct resembling Lhermitte-Duclos disease (LDD) is a rare case scenario. LDD being a rare, slowly growing cerebellar tumor is generally characterized by headaches, ataxia, cranial nerve palsies, and impaired cerebellar symptoms. Primarily diagnosed with a magnetic resonance imaging, the lesion has several differential diagnoses, including vascular malformation with cerebellar venous congestion, rhombencephalosynapsis, cerebellar dysplasia, and medulloblastoma. In unusual instances, a cerebellar stroke may mimic LDD, potentially leading to a delay in management. We present a case of a 49-year-old female with complaints of headache and vomiting for 5 days with no previous similar history. Based on the initial impression and classical imaging findings, LDD was diagnosed, and she was managed conservatively. Even though the majority of patients with LDD develop the disease over a course of time, some cases have been reported to show acute presentation. However, on worsening of symptoms, with extension of lesion on repeat imaging, an emergency craniotomy was performed, and biopsy revealed an acute infarct with hemorrhagic transformation. Various neurological conditions can imitate LDD and vice versa. We recommend that a cerebellar stroke should be ruled out when encountering with a radiological diagnosis of LDD, to avoid critical delays in the management of stroke.
Two illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management.
Lhermitte-Duclos disease is a rare subtype of gangliocytoma, a benign tumor growth in the cerebellum often associated with Cowden syndrome, a sporadic genetic pleomorphic disorder that is inherited in an autosomal dominant manner and caused by a harmful mutation in the PTEN gene. Such a mutation can originate malignant and benign tumors, including dysplastic gangliocytoma of the posterior cranial fossa. We present two illustrative cases of Lhermitte-Duclos disease that we encountered and surgically treated during the last few years. We also performed a systematic literature review concerned with the surgical management of Lhermitte-Duclos disease and Cowden syndrome. Both patients were young females complaining of occipital headaches and underwent brain MRIs that revealed unilateral discrete cerebellar atrophy and expansive lesions of the posterior cranial fossa with characteristic striate T-2 weighted hyperintensity resembling tiger fur. They were both successfully operated on due to the posterior fossa dysplastic gangliocytoma, which was histopathologically confirmed as Lhermitte-Duclos disease. In one patient, genetic testing confirmed a PTEN mutation characteristic for Cowden syndrome. Early diagnosis, genetic testing, and close monitoring are obligatory to enhance the knowledge of Lhermitte-Duclos disease and its probable association with Cowden syndrome to decrease the risk of malignancy of other organs and organic systems. Surgical posterior fossa decompression is required at the onset of neurological symptoms to relieve the mass effect and provide tissue samples for further analysis, ensuring a favorable outcome.
Case Report: A case series of Lhermitte-Duclos disease with surgical intervention.
Lhermitte-Duclos disease (LDD) is a rare dysplastic cerebellar gangliocytoma often associated with Cowden syndrome and phosphatase and tensin homolog (PTEN) alterations. We report a three-case series focusing on imaging, histopathology, PTEN testing, surgical decision-making, and outcomes. We retrospectively identified three adults with LDD who underwent standardized preoperative imaging [including magnetic resonance spectroscopy (MRS) and perfusion when feasible], surgery, and structured follow-up with Karnofsky Performance Status (KPS). PTEN assessment included immunohistochemistry and/or genetic testing where available. All patients in this case series were women (18-53 years). Two underwent subtotal resection and one underwent gross total resection. Characteristic "tiger-striped" magnetic resonance imaging (MRI) appearance was present in all cases. Histopathology showed thickened molecular layer, loss of Purkinje cells, and hypertrophic ganglion-like neurons. One patient required unplanned posterior fossa decompression due to severe postoperative edema. At 6 months, two patients improved functionally while one had poor neurological outcome. PTEN testing supported the association with PTEN hamartoma tumor syndrome in one case. PTEN evaluation should be considered in adults with LDD, especially when clinical features suggest Cowden syndrome. Surgical management should balance extent of resection with preservation of venous outflow and cerebellar function. Non-surgical strategies [observation, stereotactic radiotherapy, and exploratory mechanistic target of rapamycin (mTOR) inhibition] may be an option in selected scenarios. This single-center retrospective series is limited by its small sample size and variable follow-up imaging.
Publicações recentes
Recurrent multiloculated cystic variant of Lhermitte-Duclos disease managed with cyst fenestration and Ommaya reservoir placement: illustrative case.
Cowden Syndrome: Imaging Review and Cancer Surveillance.
Case Report: A case series of Lhermitte-Duclos disease with surgical intervention.
Atypical presentation of acute cerebellar infarct as Lhermitte-Duclos disease.
Surgical Strategy for Superior Cerebellar Peduncle Lesions: Utility of the Subtemporal Transtentorial Approach.
📚 EuropePMC260 artigos no totalmostrando 116
Recurrent multiloculated cystic variant of Lhermitte-Duclos disease managed with cyst fenestration and Ommaya reservoir placement: illustrative case.
Journal of neurosurgery. Case lessonsCowden Syndrome: Imaging Review and Cancer Surveillance.
Radiographics : a review publication of the Radiological Society of North America, IncCase Report: A case series of Lhermitte-Duclos disease with surgical intervention.
Frontiers in oncologyAtypical presentation of acute cerebellar infarct as Lhermitte-Duclos disease.
Surgical neurology internationalSurgical Strategy for Superior Cerebellar Peduncle Lesions: Utility of the Subtemporal Transtentorial Approach.
World neurosurgeryCerebellar ganglioglioma mimicking the radiographic appearance of Lhermitte-Duclos disease: A case report and review of literature.
Radiology case reportsDysplastic gangliocytoma of the cerebellum with an unusual radiological finding.
Ceskoslovenska patologieFreiburg Neuropathology Case Conference: Transition from Chronic Dizziness to Acute Headache and Nausea in a 30-Year-Old.
Clinical neuroradiologyUtility of Intraoperative Ultrasound in Surgical Management of Lhermitte-Duclos Disease: A Case Report.
Asian journal of neurosurgeryTwo illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management.
Brain & spineA Rare Case of Lhermitte Duclos Disease Associated with Somatic PTEN and Germline SUFU Variants.
Cerebellum (London, England)Breast Cancer with a Newly Diagnosed Variant in the PTEN Gene: A Case Report.
Surgical case reportsDysplastic ganglion cell tumor of the right cerebellum: A case report and literature review.
MedicineTeaching NeuroImage: Tigroid Appearance of Cerebellum on MRI in Lhermitte-Duclos Disease.
NeurologyAcute acquired comitant esotropia associated with Lhermitte-Duclos disease: a case report.
Journal of medical case reportsTreatment and Diagnostic Approach for Lhermitte-Duclos Disease and Suspected Cowden Syndrome.
CureusLhermitte-Duclos Disease in an Eight-Year-Old Boy: A Case Report.
CureusThe Lhermitte-Duclos disease: A case report.
Asian journal of surgeryLhermitte-Duclos disease in a 51-year old patient.
Radiology case reportsCase report: Association between PTEN-gene variant and an aggressive case of multiple dAVFs.
Frontiers in neurologyCerebellar phenotypes in germline PTEN mutation carriers.
Neuropathology and applied neurobiologyGiant cell collagenomas associated with Cowden syndrome: A case report.
Journal of cutaneous pathologyLhermitte-Duclos disease with excessive calcification in a septuagenarian: A case report.
MedicineLhermitte-Duclos Disease: A Rare Entity With Typical Histology but Ambiguous Histogenesis.
International journal of surgical pathologyLhermitte-Duclos disease: A systematic review.
Surgical neurology internationalAnesthetic Management for a Patient with Rosai-Dorfman Disease, Cowden Syndrome, and Lhermitte-Duclos Disease: An Extremely Rare Disease Combination.
CureusLhermitte-Duclos Disease: A Case Series.
CureusA young female of Cowden syndrome presenting with Lhermitte-Duclos disease: An illustrative case.
Surgical neurology internationalDiagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature.
BMC medical genomicsLhermitte-Duclos disease with concomitant KCNT2 gene mutation: report of an extremely rare combination.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAssociation between Cowden syndrome and Lhermitte-Duclos disease: A case report of an uncommon Genetic Hamartomatous Disorder.
Radiology case reportsLhermitte-Duclos disease: A rare case of cerebellar tumor with successful surgical treatment.
Surgical neurology internationalRecovery From Psychotic Disorder: A Surgical Case With Lhermitte-Duclos Disease.
Biological psychiatryLhermitte-Duclos disease: A series of six cases.
Journal of neurosciences in rural practicePosterior Fossa Dysembryoplastic Neuroepithelial Tumor: A Neuropathological Report.
CureusClinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation.
MedicineLhermitte-Duclos Disease Related With Cowden Syndrome Mimicking Metastatic Lung Cancer on FDG PET/CT.
Clinical nuclear medicinePosterior Fossa Intra-Axial Lesion: There Are Pathologies Beyond Metastases.
Asian journal of neurosurgerySubacute Posterior Inferior Cerebellar Artery Stroke Radiographically Mimicking Lhermitte-Duclos Disease.
CureusLhermitte-Duclos Disease.
RadiologyLhermitte-Duclos Disease: A Rare Cerebellar Hamartoma Presenting Following Traumatic Brain Injury And A Review Of The Literature.
Journal of Ayub Medical College, Abbottabad : JAMCEpilepsy in Cowden syndrome: beyond Lhermitte-Duclos disease.
Acta neurologica BelgicaDiverse imaging findings of Lhermitte-Duclos disease.
Clinical radiologyThe surgical resection of dysplastic cerebellar gangliocytoma assisted by intraoperative sonography: illustrative case.
Journal of neurosurgery. Case lessonsCoexisting lipomatous meningioma and glioblastoma in Cowden syndrome: A unique tumor association.
Neuropathology : official journal of the Japanese Society of NeuropathologyLhermitte-Duclos disease (dysplastic cerebellar gangliocytoma) in the setting of cowden syndrome: a case report and literature review on COLD syndrome.
British journal of neurosurgeryParesthesias and Weakness of Lower Limbs as Symptomatic Debut of Lhermitte-Duclos Disease.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesDysplastic gangliocytoma of the cerebellum in a cat.
Veterinary pathologyMR imaging features of Lhermitte-Duclos disease: Case reports and literature review.
MedicineMedulloblastoma and Cowden syndrome: Further evidence of an association.
Free neuropathologyPTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy.
CancersLhermitte-Duclos Disease in Pediatric Population: Report of 2 Cases.
Pediatric neurosurgery[Dysplastic Cerebellar Gangliocytoma(Lhermitte-Duclos Disease)].
No shinkei geka. Neurological surgeryLhermitte-Duclos disease: A case report and literature review.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciencesLhermitte-Duclos disease at an initial stage: Case report.
Revue neurologiqueLhermitte-duclos disease (dysplastic cerebellar gangliocytoma): A case report.
JPMA. The Journal of the Pakistan Medical AssociationRadiographic Findings of Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in a Woman with Cowden Syndrome: A Case Study and Literature Review.
Journal of radiology case reportsRole of Long-Term Vestibular Rehabilitation in a Patient with Posterior Fossa Tumor: A Case Report with 2 Years of Follow-Up.
The American journal of case reportsDe Novo Cavernoma Formation in a Patient With Cowden Syndrome and Lhermitte-Duclos Disease.
World neurosurgeryDysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) presenting as a prenatally heterotopic hamartoma.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryBilateral Dysplastic Gangliocytoma with Concurrent Polyostotic Fibrous Dysplasia: A Case Report and Literature Review.
World neurosurgeryCowden Syndrome Diagnosed by Bilateral Breast Cancer with Lhermitte-Duclos Disease: A Case Report.
Case reports in oncologyTeaching case 2-2020: Lhermitte-Duclos disease in a female patient with Cowden syndrome.
Clinical neuropathologyAn update on the CNS manifestations of brain tumor polyposis syndromes.
Acta neuropathologicaImaging of PTEN-related abnormalities in the central nervous system.
Clinical imagingResection of a Symptomatic Dysplastic Cerebellar Gangliocytoma: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology.
The Pan African medical journalGlioneuronal Tumor With Features of Ganglioglioma and Neurocytoma Arising in the Fourth Ventricle: A Report of 2 Unusual Cases and a Review of Infratentorial Gangliogliomas.
Journal of neuropathology and experimental neurologyPTEN Hamartoma Tumor Syndrome: A Clinical Overview.
CancersLhermitte-Duclos disease: A case report with radiologic-pathologic correlation.
Radiology case reportsBilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review.
World neurosurgeryLhermitte-Duclos Disease with Cervical Arteriovenous Fistula.
Journal of neurological surgery. Part A, Central European neurosurgeryClinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease).
World neurosurgerySpinal Extradural Arteriovenous Fistula with Cowden Syndrome: A Case Report and Literature Review Regarding Pathogenesis and Therapeutic Strategy.
NMC case report journalLhermitte-Duclos Disease in a Six-Year Old Child: A Rare Presentation.
Pediatric neurosurgeryIncreased 18F-FDG Uptake in Lhermitte-Duclos Disease With Cowden Syndrome Revealed by PET-MRI.
Clinical nuclear medicineNeuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.
Neurology. Clinical practiceAction Semantics at the Bottom of the Brain: Insights From Dysplastic Cerebellar Gangliocytoma.
Frontiers in psychologyChildhood Lhermitte-Duclos Disease Progressing to Medulloblastoma in Bilateral Cerebellar Hemispheres: Report of Unusual Case.
World neurosurgeryAn Unusual Case of Lhermitte-Duclos Disease Manifesting with Intratumoral Hemorrhage.
World neurosurgeryCerebellar Ganglioglioma in Childhood: Histopathologic Implications for Management During Long-term Survival: A Case Report.
Yonago acta medica[A Case of Cowden Syndrome Associated with Lhermitte-Duclos Disease].
Brain and nerve = Shinkei kenkyu no shinpoLhermitte-Duclos disease: an extremely rare cerebellar tumor.
The Pan African medical journalLhermitte-Duclos Disease: A Rare Cause of Cerebellar Ataxia.
Asian journal of neurosurgeryLhermitte-Duclos disease: Clinical study with long-term follow-up in a single institution.
Clinical neurology and neurosurgeryHereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease.
Surgical case reportsFrequent vomiting attacks in a patient with Lhermitte-Duclos disease: a rare pathophysiology of cerebellar lesions?
Journal of neurosurgery. PediatricsA case report of Lhermitte-Duclos disease revealed by psychiatric disturbances.
Annals of general psychiatryLhermitte-Duclos Disease and Cerebellar Gangliocytoma-An Incidental Finding in a Patient with Gradual Vision Loss.
Neuro-ophthalmology (Aeolus Press)Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up.
World neurosurgeryLhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.
BMJ case reportsLhermitte-Duclos disease: A rare entity.
Medical journal, Armed Forces IndiaInfantile Lhermitte-Duclos Disease Treated Successfully With Rapamycin.
Journal of child neurologyExome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte-Duclos disease.
Cold Spring Harbor molecular case studiesLhermitte-Duclos Disease in association with Cowden Syndrome.
Dermatology online journalLhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter.
Folia neuropathologicaHidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
OncoscienceHigh-Definition Fiber Tractography in the Evaluation and Surgical Planning of Lhermitte-Duclos Disease: A Case Report.
World neurosurgeryManagement of unusual dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) in a developing country: Case report and review of the literature.
Asian journal of neurosurgeryGenodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome.
Head and neck pathologyLhermitte-Duclos disease as a cranial manifestation of Cowden syndrome.
Neurology IndiaRadiological features of cerebellar glioblastoma.
Journal of neuroradiology = Journal de neuroradiologiePseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMultinodular and vacuolating neuronal tumor affecting amygdala and hippocampus: A quasi-tumor?
Pathology internationalCowden syndrome with Lhermitte- Duclos disease presenting as ataxia.
The National medical journal of IndiaMagnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.
Journal of computer assisted tomographyThe successful treatment of a patient with Lhermitte--Duclos disease (A case report and literature rewiew).
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoLhermitte-Duclos Disease: Diagnosis on MRI, MR Spectroscopy, CT and Positron Emission Tomography.
Journal of clinical and diagnostic research : JCDRDysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome.
Case reports in oncological medicineLhermitte-Duclos Disease Treated Surgically in an Elderly Patient: Case Report and Literature Review.
Turkish neurosurgeryCowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.
Neurologia i neurochirurgia polskaTumor-to-tumor metastases in Cowden's disease: an autopsy case report and review of the literature.
Diagnostic pathologySimilar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature.
International journal of clinical and experimental pathologyCerebellar pleomorphic xanthoastrocytoma in a patient with neurofibromatosis type 1: a case report and literature review.
International journal of clinical and experimental pathologyIntracranial hypertension and cerebellar symptoms due to Lhermitte-Duclos disease.
Iranian journal of neurologyMalignant peripheral nerve sheath tumor in cowden syndrome: a first report.
Journal of neuropathology and experimental neurologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Recurrent multiloculated cystic variant of Lhermitte-Duclos disease managed with cyst fenestration and Ommaya reservoir placement: illustrative case.
- Cowden Syndrome: Imaging Review and Cancer Surveillance.Radiographics : a review publication of the Radiological Society of North America, Inc· 2026· PMID 41746821mais citado
- Atypical presentation of acute cerebellar infarct as Lhermitte-Duclos disease.
- Two illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management.
- Case Report: A case series of Lhermitte-Duclos disease with surgical intervention.
- Surgical Strategy for Superior Cerebellar Peduncle Lesions: Utility of the Subtemporal Transtentorial Approach.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:65285(Orphanet)
- MONDO:0019002(MONDO)
- GARD:6901(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1461101(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
