Lhermitte-Duclos disease

Common Name(s)

Lhermitte-Duclos disease

Lhermitte-Duclos disease (LDD) is a very rare, benign (non-cancerous) brain tumor, called a dysplastic gangliocytoma of the cerebellum, that is characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. LDD manifests most commonly in the third and fourth decades of life. Symptoms may include headache, nausea, cerebellar dysfunction, hydrocephalus, ataxia (problems with movement and coordination), and visual disturbances. Other features may include an enlarged brain (megalencephaly), hydromyelia, extra fingers or toes (polydactyly), partial gigantism, and/or a large tongue (macroglossia). Lhermitte-Duclos disease can occur as an isolated condition; it is also associated with a hereditary cancer syndrome called Cowden disease. Although the exact cause is unknown, mutations in the PTEN gene have been identified in some individuals with LDD.
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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lhermitte-Duclos disease" for support, advocacy or research.

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General Support Organizations

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Lhermitte-Duclos disease can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lhermitte-Duclos disease" returned 26 free, full-text research articles on human participants. First 3 results:

Exome sequencing reveals germline gain-of-function mutation in an adult with Lhermitte-Duclos disease.
 

Author(s): Samantha Colby, Lamis Yehia, Farshad Niazi, JinLian Chen, Ying Ni, Jessica L Mester, Charis Eng

Journal: Cold Spring Harb Mol Case Stud. 2016 11;2(6):a001230.

 

Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for . Exome sequencing revealed a germline heterozygous ...

Last Updated: 31 Dec 1969

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Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter.
 

Author(s): D Rusiecki, B Lach

Journal: Folia Neuropathol. 2016 ;54(2):190-6.

 

Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. ...

Last Updated: 31 Dec 1969

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Lhermitte-Duclos disease.
 

Author(s): Sugata Narayan Biswas, Partha Pratim Chakraborty, Shinjan Patra

Journal:

 

Last Updated: 31 Dec 1969

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PubMed Article Results at NCBI: 26 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lhermitte-Duclos disease" returned 6 free, full-text review articles on human participants. First 3 results:

[The successful treatment of a patient with Lhermitte--Duclos disease (A case report and literature rewiew)].
 

Author(s): V N Shimanskiy, V V Karnaukhov, L V Shishkina, E V Vinogradov

Journal: Zh Vopr Neirokhir Im N N Burdenko. 2015 ;79(4):78-83.

 

Lhermitte--Duclos disease is a rare autosomal dominant inherited disorder characterized by the loss of the normal cerebellar cortex architecture and hamartoma formation in the cerebellar hemispheres. Most commonly, this disease manifests in the third and fourth decades of life. Approximately ...

Last Updated: 31 Dec 1969

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Lhermitte-Duclos Disease Treated Surgically in an Elderly Patient: Case Report and Literature Review.
 

Author(s): Hiroaki Matsumoto, Hiroaki Minami, Yasuhisa Yoshida

Journal: Turk Neurosurg. 2015 ;25(5):783-7.

 

A 75-year-old man with Lhermitte-Duclos Disease (LDD) manifesting as progressive headache is presented. Magnetic resonance imaging demonstrated a right cerebellar mass lesion with the characteristic "tiger-striped appearance". A mild mass effect was evident at the medulla oblongata, ...

Last Updated: 31 Dec 1969

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Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature.
 

Author(s): Shengyue Huang, Guobin Zhang, Junting Zhang

Journal:

 

Although previous reports purpored that the unique magnetic resonance imaging (MRI) features of Lhermitte-Duclos disease (LDD) obviates the need for biopsy, we have made a misdiagnosis of LDD which has an indistinguishable imaging appearance. We present a patient who suffered from ...

Last Updated: 31 Dec 1969

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PubMed Review Results at NCBI: 6 review(s)

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
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Full Results at Genetics Home Reference: 1242 matches

There are currently no related results available in GeneReviews.

This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/C0391826
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Lhermitte-Duclos disease" (open studies are recruiting volunteers) and 0 "Lhermitte-Duclos disease" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Lhermitte-Duclos disease can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More