Lhermitte-Duclos Disease

Symptoms, Doctors, Treatments, Research & More

Condition 101

What is the definition of Lhermitte-Duclos Disease?

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.

What are the alternative names for Lhermitte-Duclos Disease?

  • Dysplastic gangliocytoma of the cerebellum

Latest Research

Latest Advance
  • Condition: Cowden Syndrome
  • Journal: The oncologist
  • Treatment Used: Sirolimus
  • Number of Patients: 18
  • Published —
This study tested the safety and efficacy of using sirolimus to treat patients with Cowden syndrome.

Clinical Trials

Clinical Trial
  • Status: Recruiting
  • Study Type: Drug
  • Participants: 10
  • Start Date: September 16, 2019
Sirolimus for Cowden Syndrome With Colon Polyposis
Clinical Trial
  • Status: Recruiting
  • Participants: 2500
  • Start Date: August 3, 2017
Liquid Biopsy Evaluation and Repository Development at Princess Margaret