Disease Profile

Lhermitte-Duclos disease

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Adult

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ICD-10

Q04.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Dysplastic gangliocytoma of the cerebellum

Categories

Congenital and Genetic Diseases; Nervous System Diseases; Rare Cancers

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]

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.

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

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.

      References

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