Living with Lhermitte-Duclos disease
A very rare, non-cancerous growth in the cerebellum (the part of the brain for balance) that usually shows up in adulthood.
Understanding Lhermitte-Duclos disease
The cerebellum develops abnormally and becomes enlarged, which raises pressure inside the skull. It most often shows up in a person's thirties and forties. It can occur on its own, or along with a hereditary cancer syndrome called Cowden disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Headache
- Nausea
- Poor balance and coordination (ataxia)
- Vision changes
- Enlarged cerebellum
- Extra fingers or toes (polydactyly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PTEN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Brain Tumor Society and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
The exact cause is unknown. Changes in the PTEN gene have been found in some people. GARD lists autosomal dominant inheritance.
Also known as: dysplastic cerebellar gangliocytoma; dysplastic gangliocytoma of cerebellum; dysplastic gangliocytoma of cerebellum (lhermitte-duclos); dysplastic gangliocytoma of the cerebellum; ldd; lhermitte-duclos syndrome
Patient organizations
- National Brain Tumor SocietyLhermitte-Duclos disease · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lhermitte-Duclos disease.
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