Lhermitte-Duclos disease

Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum or Cowden syndrome with cerebellar involvement, is a rare condition that causes an abnormal growth in a part of the brain called the cerebellum. The cerebellum sits at the back of your skull and controls balance, coordination, and fine movement. In LDD, brain cells in the cerebellum grow in a disorganized, overgrown way, forming a tumor-like mass called a hamartoma. This is not a typical cancerous tumor, but it still takes up space inside the skull and can press on surrounding brain tissue, causing serious symptoms. Most people with LDD also have an underlying condition called Cowden syndrome, which is caused by changes in a gene called PTEN. Cowden syndrome increases the risk of developing certain cancers, including breast, thyroid, and uterine cancer. Because of this connection, a diagnosis of LDD often leads doctors to look for Cowden syndrome and to screen for related cancers. Symptoms of LDD usually appear in adulthood and can include headaches, problems with balance and walking, vision changes, and increased pressure inside the skull. Treatment most often involves surgery to remove as much of the abnormal growth as possible. Unfortunately, the growth can come back after surgery, and there is no medication that cures the disease. Ongoing monitoring and cancer screening are important parts of long-term care.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.Should I have genetic testing for the PTEN gene, and what does a positive result mean for me and my family?,What cancer screenings do I need because of my diagnosis, and how often should I have them?,What are the signs that the cerebellar growth is coming back, and how often should I have MRI scans?,Is surgery recommended for me right now, and what are the risks and benefits?,Are there any clinical trials or new treatments I should know about for Lhermitte-Duclos disease?,Should my children or siblings be tested for PTEN mutations?,What specialists should be part of my long-term care team?

Common questions about Lhermitte-Duclos disease

Related conditions

Other rare diseases commonly researched alongside Lhermitte-Duclos disease.

• Bannayan-Riley-Ruvalcaba syndrome→
• Cowden syndrome→
• Juvenile polyposis syndrome→
• Proteus syndrome→