Lhermitte-Duclos disease

Title

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Other Names:

Dysplastic gangliocytoma of the cerebellum

Categories:

Congenital and Genetic Diseases; Nervous System Diseases; Rare Cancers

Summary Summary

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

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Ataxia		0001251
Cranial nerve paralysis		0006824
Enlarged cerebellum		0012081
Hand polydactyly	Extra finger	0001161
Headache	Headaches	0002315
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Increased intracranial pressure	Rise in pressure inside skull	0002516
Macrocephaly	Increased size of skull Large head Large head circumference [ more ]	0000256
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Nausea and vomiting		0002017
Papule		0200034
Polymicrogyria	More grooves in brain	0002126
Seizure		0001250
30%-79% of people have these symptoms
Acrokeratosis		0200016
Fibroadenoma of the breast		0010619
Neoplasm of the thyroid gland		0100031
Ovarian neoplasm	Ovarian tumor	0100615
Trichilemmoma		0012844
1%-4% of people have these symptoms
Decreased circulating antibody level		0004313
Lymphopenia	Decreased blood lymphocyte number Low lymphocyte number [ more ]	0001888
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Percent of people who have these symptoms is not available through HPO
Abnormality of the vasculature	Abnormality of blood vessels Vascular abnormalities [ more ]	0002597
Adult onset	Symptoms begin in adulthood	0003581
Angioid streaks of the fundus		0001102
Autosomal dominant inheritance		0000006
Breast carcinoma	Breast cancer	0003002
Carcinoma		0030731
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Colonic diverticula		0002253
Dysplastic gangliocytoma of the cerebellum		0500009
Furrowed tongue	Grooved tongue	0000221
Global developmental delay		0001263
Goiter	Enlarged thyroid gland in neck	0000853
Gynecomastia	Enlarged male breast	0000771
Hamartomatous polyposis		0004390
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hemimegalencephaly		0007206
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hydrocele testis		0000034
Hyperthyroidism	Overactive thyroid	0000836
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Hypothyroidism	Underactive thyroid	0000821
Intellectual disability, mild	Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ]	0001256
Intention tremor		0002080
Kyphosis	Hunched back Round back [ more ]	0002808
Meningioma		0002858
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Narrow mouth	Small mouth	0000160
Ovarian carcinoma		0025318
Ovarian cyst		0000138
Palmoplantar hyperkeratosis	Thickening of the outer layer of the skin of the palms and soles	0000972
Pectus excavatum	Funnel chest	0000767
Progressive macrocephaly	Progressively abnormally enlarging cranium Progressively abnormally enlarging skull [ more ]	0004481
Scoliosis		0002650
Skin tags		0010609
Subcutaneous lipoma		0001031
Thyroid adenoma		0000854
Thyroiditis	Thyroid gland inflammation	0100646
Transitional cell carcinoma of the bladder		0006740
Varicocele		0012871

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Last updated: 1/1/2021

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

American Brain Tumor Association
8550 W. Bryn Mawr Ave, Ste 550
Chicago, IL 60631
Toll-free: 1-800-886-2282
Telephone: +1-773-577-8750
Fax: +1-773-577-8738
E-mail: info@abta.org
Website: https://www.abta.org/
Brain Foundation
P O Box 579
Crows Nest, NSW
1585 Suite 21
Regent House 37-43
Alexander Street Crows Nest, NSW 2065
Australia
Telephone: 61 2 9437 5967
Fax: 61 2 9437 5978
E-mail: http://brainfoundation.org.au/contact
Website: http://www.brainfoundation.org.au/
International Brain Tumour Alliance
10 Carrodus Street,
Fraser, ACT, 2615
Australia
E-mail: chair@theibta.org
Website: http://www.theibta.org/
National Brain Tumor Society
55 Chapel St., Suite 200
Newton, MA 02458
Telephone: +1-617-924-9997
Fax: +1-617-924 -9998
E-mail: http://braintumor.org/our-mission/contact-us/
Website: http://braintumor.org/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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.

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