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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Synonyms
- Lhermitte-Duclos disease (LDD)
- Dysplastic cerebellar gangliocytoma, gangliocytoma dysplasticum, hamartoma of cerebellum
- Hamartoblastoma, cerebelloparenchymal disorder 6, granule cell hypertrophy, granular cell hypertrophy, granulomolecular hypertrophy
- Diffuse ganglioneuroma of cerebellar cortex, diffuse cerebellar hypertrophy, neurocytic blastoma, myelinated neurocytoma, purkinjeoma
- Multiple hamartoma syndrome (MHAM)
- Multiple hamartoma-neoplasia syndrome, Cowden disease, Cowden syndrome (CS), Cowden-Lhermitte-Duclos (COLD) syndrome
- Lhermitte-Duclos disease (LDD)
Definitions
- LDD → neurologic manifestation of MHAM
- 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
- Autosomal dominant, variable expression, typically mutation in PTEN gene
- LDD → neurologic manifestation of MHAM
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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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
- Hamartoblastoma, cerebelloparenchymal disorder 6, granule cell hypertrophy, granular cell hypertrophy, granulomolecular hypertrophy
- Diffuse ganglioneuroma of cerebellar cortex, diffuse cerebellar hypertrophy, neurocytic blastoma, myelinated neurocytoma, purkinjeoma
- Multiple hamartoma syndrome (MHAM)
- Multiple hamartoma-neoplasia syndrome, Cowden disease, Cowden syndrome (CS), Cowden-Lhermitte-Duclos (COLD) syndrome
- Lhermitte-Duclos disease (LDD)
Definitions
- LDD → neurologic manifestation of MHAM
- 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
- Autosomal dominant, variable expression, typically mutation in PTEN gene
- LDD → neurologic manifestation of MHAM
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
