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Lhermitte-Duclos disease

Synonym(s) Dysplastic gangliocytoma of the cerebellum
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Not applicable
Age of onset Adult
  • Q04.8
  • C0391826
  • C1266181
MeSH -
MedDRA -


Disease definition

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure.

Clinical description

It manifests (most commonly in the third and fourth decades of life) with headache, nausea, cerebellar dysfunction, occlusive hydrocephalus, ataxia, visual disturbances and other cranial nerve palsies. Various associated abnormalities may be present (megalencephaly, microgyria, hydromyelia, polydactyly, partial gigantism, macroglossia). Co-existing conditions include Cowden disease.


The etiology is uncertain; germline mutations in tumor suppressor gene PTEN have been identified in some patients with LDD.

Diagnostic methods

Diagnosis of LDD is confirmed by magnetic resonance imaging (MRI).

Management and treatment

Management includes decompressive surgical intervention.

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