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Lhermitte-Duclos disease

Orpha number ORPHA65285
Synonym(s) Dysplastic gangliocytoma of the cerebellum
LDD
Prevalence <1 / 1 000 000
Inheritance
  • Unknown
Age of onset Adulthood
ICD-10
  • Q04.8
OMIM
UMLS
  • C0391826
  • C1266181
MeSH -
MedDRA -
SNOMED CT
  • 128791005
  • 67944007

Summary

Lhermitte-Duclos disease (LDD) is a very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. 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. Diagnosis of LDD is confirmed by magnetic resonance imaging (MRI). The etiology is uncertain; germline mutations in tumor suppressor gene PTEN have been identified in some patients with LDD. Management includes decompressive surgical intervention.


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Detailed information

Review article
  • EN (2008,pdf)
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