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Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.
Biomarker and diagnostic research for Lhermitte-Duclos disease has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.
26 publications have been identified in PubMed for Lhermitte-Duclos disease. Research spans Case Report / Case Series (77%), Review / Meta-Analysis (15%), and Other (4%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 20 | 77% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Lhermitte-Duclos disease
Research summaries |
4 |
15% |
Other research | 1 | 4% |
Testing and diagnosis research | 1 | 4% |
Uchida D (2026). [PMID: 41871401](https://pubmed.ncbi.nlm.nih.gov/41871401/). *J Neurosurg Case Lessons*. [Case Report / Case Series]
Chapman EK (2026). [PMID: 41148183](https://pubmed.ncbi.nlm.nih.gov/41148183/). *J Neurosurg Sci*. [Case Report / Case Series]
Wang MX (2026). [PMID: 41746821](https://pubmed.ncbi.nlm.nih.gov/41746821/). *Radiographics : a review publication of the Radiological Society of North America, Inc*. [Diagnostic / Biomarker]
Lakicevic G (2025). [PMID: 40469941](https://pubmed.ncbi.nlm.nih.gov/40469941/). *Brain & spine*. [Case Report / Case Series]
Chen Z (2025). [PMID: 41211447](https://pubmed.ncbi.nlm.nih.gov/41211447/). *Frontiers in oncology*. [Case Report / Case Series]
Imai R (2025). [PMID: 40946786](https://pubmed.ncbi.nlm.nih.gov/40946786/). *World neurosurgery*. [Case Report / Case Series]
Hojsáková M (2025). [PMID: 40763010](https://pubmed.ncbi.nlm.nih.gov/40763010/). *Ceskoslovenska patologie*. [Case Report / Case Series]
Maeda Y (2025). [PMID: 39974553](https://pubmed.ncbi.nlm.nih.gov/39974553/). *Surgical case reports*. [Case Report / Case Series]
Kumar G K (2025). [PMID: 41036042](https://pubmed.ncbi.nlm.nih.gov/41036042/). *Surgical neurology international*. [Case Report / Case Series]
Gharib A (2025). [PMID: 40821364](https://pubmed.ncbi.nlm.nih.gov/40821364/). *Radiology case reports*. [Case Report / Case Series]
AI-curated news mentioning Lhermitte-Duclos disease
Updated Sep 12, 2026
A recent case report highlights a genetic association between Lhermitte-Duclos Disease and Autism Spectrum Disorder in patients with PTEN mutations. This finding contributes to the understanding of the genetic links between these conditions.