Orphanet: Lhermitte Duclos disease

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Lhermitte-Duclos disease

ORPHA:65285

Classification level: Disorder

Synonym(s):
- Dysplastic gangliocytoma of the cerebellum
- LDD
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant or Not applicable
Age of onset: Adult
ICD-10: Q04.8
ICD-11: 2A00.21
OMIM: 158350
UMLS: C0391826
MeSH: -
GARD: 6901
MedDRA: -

Summary

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.

Etiology

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.

- Last update: February 2006

A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

Detailed information

Guidelines

Clinical practice guidelines
English (2022) - Neuro Oncol

Disease review articles

Review article
English (2008, pdf) - Eur J Hum Genet

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