Benign cerebellar lesion but unclear if neoplastic, malformative, or hamartomatous
Association between LDD and MHAM probably represents new neurocutaneous syndrome
MHAM
Autosomal dominant, variable expression, typically mutation in PTEN gene
PTEN is part of mTORC1 pathway, involved in cell proliferation and neoplasia
Hamartomatous neoplasms of skin (90-100%), mucosa, GI tract, bones, CNS, eyes, and GU tract
Associated with increased incidence of malignancy
Other types of tumors and vascular malformations may be present on MR
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Dhamija R et al: Updated imaging features of dysplastic cerebellar gangliocytoma. J Comput Assist Tomogr. 43(2):277-81, 2019
Ma J et al: Clinical perspective on dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). World Neurosurg. 122:16-23, 2019
Jiang T et al: Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) and Cowden syndrome: clinical experience from a single institution with long-term follow-up. World Neurosurg. 104:398-406, 2017
Bosemani T et al: Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? Childs Nerv Syst. 32(5):865-71, 2016
Wei G et al: Teaching neuroimages: MRI appearances of Lhermitte-Duclos disease. Neurology. 80(6):e67-8, 2013
Zou YH et al: Unusual posterior fossa mass caused by Lhermitte-Duclos disease with no symptoms in adults. Br J Neurosurg. 26(1):99-101, 2012
Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
Cianfoni A et al: Morphological and functional MR imaging of Lhermitte-Duclos disease with pathology correlate. J Neuroradiol. 35(5):297-300, 2008
Takei H et al: Anaplastic ganglioglioma arising from a Lhermitte-Duclos-like lesion. Case report. J Neurosurg. 107(2 Suppl):137-42, 2007
Thomas B et al: Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology. 49(9):733-8, 2007
Van Calenbergh F et al: Lhermitte-Duclos disease: 11C-methionine positron emission tomography data in 4 patients. Surg Neurol. 65(3):293-6; discussion 296-7, 2006
Abel TW et al: Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol. 64(4):341-9, 2005
Lok C et al: Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore). 84(2):129-36, 2005
Padma MV et al: Functional imaging in Lhermitte-Duclose disease. Mol Imaging Biol. 6(5):319-23, 2004
Buhl R et al: Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa. Acta Neurochir (Wien). 145(6):509-12; discussion 512, 2003
Capone Mori A et al: Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatrics. 34(1):30-5, 2003
Klisch J et al: Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy. AJNR Am J Neuroradiol. 22(5):824-30, 2001
Ogasawara K et al: Blood flow and oxygen metabolism in a case of Lhermitte-Duclos disease: results of positron emission tomography. J Neurooncol. 55(1):59-61, 2001
Robinson S et al: Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery. 46(2):371-83, 2000
Murata J et al: Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. J Neurooncol. 41(2):129-36, 1999
Awwad EE et al: Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol. 16(8):1719-20, 1995
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Synonyms
Lhermitte-Duclos disease (LDD)
Dysplastic cerebellar gangliocytoma, gangliocytoma dysplasticum, hamartoma of cerebellum
Benign cerebellar lesion but unclear if neoplastic, malformative, or hamartomatous
Association between LDD and MHAM probably represents new neurocutaneous syndrome
MHAM
Autosomal dominant, variable expression, typically mutation in PTEN gene
PTEN is part of mTORC1 pathway, involved in cell proliferation and neoplasia
Hamartomatous neoplasms of skin (90-100%), mucosa, GI tract, bones, CNS, eyes, and GU tract
Associated with increased incidence of malignancy
Other types of tumors and vascular malformations may be present on MR
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Nuclear Medicine Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Dhamija R et al: Updated imaging features of dysplastic cerebellar gangliocytoma. J Comput Assist Tomogr. 43(2):277-81, 2019
Ma J et al: Clinical perspective on dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). World Neurosurg. 122:16-23, 2019
Jiang T et al: Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum) and Cowden syndrome: clinical experience from a single institution with long-term follow-up. World Neurosurg. 104:398-406, 2017
Bosemani T et al: Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? Childs Nerv Syst. 32(5):865-71, 2016
Wei G et al: Teaching neuroimages: MRI appearances of Lhermitte-Duclos disease. Neurology. 80(6):e67-8, 2013
Zou YH et al: Unusual posterior fossa mass caused by Lhermitte-Duclos disease with no symptoms in adults. Br J Neurosurg. 26(1):99-101, 2012
Shinagare AB et al: Case 144: Dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease). Radiology. 251(1):298-303, 2009
Cianfoni A et al: Morphological and functional MR imaging of Lhermitte-Duclos disease with pathology correlate. J Neuroradiol. 35(5):297-300, 2008
Takei H et al: Anaplastic ganglioglioma arising from a Lhermitte-Duclos-like lesion. Case report. J Neurosurg. 107(2 Suppl):137-42, 2007
Thomas B et al: Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology. 49(9):733-8, 2007
Van Calenbergh F et al: Lhermitte-Duclos disease: 11C-methionine positron emission tomography data in 4 patients. Surg Neurol. 65(3):293-6; discussion 296-7, 2006
Abel TW et al: Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol. 64(4):341-9, 2005
Lok C et al: Brain magnetic resonance imaging in patients with Cowden syndrome. Medicine (Baltimore). 84(2):129-36, 2005
Padma MV et al: Functional imaging in Lhermitte-Duclose disease. Mol Imaging Biol. 6(5):319-23, 2004
Buhl R et al: Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa. Acta Neurochir (Wien). 145(6):509-12; discussion 512, 2003
Capone Mori A et al: Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatrics. 34(1):30-5, 2003
Klisch J et al: Lhermitte-Duclos disease: assessment with MR imaging, positron emission tomography, single-photon emission CT, and MR spectroscopy. AJNR Am J Neuroradiol. 22(5):824-30, 2001
Ogasawara K et al: Blood flow and oxygen metabolism in a case of Lhermitte-Duclos disease: results of positron emission tomography. J Neurooncol. 55(1):59-61, 2001
Robinson S et al: Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery. 46(2):371-83, 2000
Murata J et al: Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. J Neurooncol. 41(2):129-36, 1999
Awwad EE et al: Atypical MR appearance of Lhermitte-Duclos disease with contrast enhancement. AJNR Am J Neuroradiol. 16(8):1719-20, 1995
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