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Genetic and Rare Diseases Information Center (GARD)

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Lhermitte-Duclos disease


Other Names for this Disease

  • Dysplastic gangliocytoma of the cerebellum
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Overview

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.[1]
Last updated: 11/30/2011

References

  1. Lhermitte-Duclos disease. Orphanet. February 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65285. Accessed 11/30/2011.
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Basic Information

  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.  Click on the link to view information on this topic. 

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Lhermitte-Duclos disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Dysplastic gangliocytoma of the cerebellum
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.