Lhermitte-Duclos disease

Infobox_Disease
Name = Lhermitte-Duclos disease

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Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertrophy of the stratum granulosum of the cerebellum. It is often associated with Cowden syndrome and is pathognomonic for this disease [Eng C (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J Med Genet 37 (11): 828-30. PMID 11073535. ] . It was described by Jacques Jean Lhermitte and P. Duclos in 1920 [J. Lhermitte, P. Duclos:Sur un ganglioneurome diffuse du cortex du cervelet.Bulletin de l'Association francaise pour l'etude du cancer, Paris, 1920, 9: 99-107.] .

Epidemiology

Lhermitte-Duclos disease is a rare entity; approximately 220 cases of LDD have been reported in medical literature [Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature. Neurosurg Focus. 2006 Jan 15;20(1):E6.] . It's most common in 3. and 4. decade of life.

Etiology

Cowden disease is caused by mutations of "PTEN" gene.

Clinical signs

Main clinical signs are:
* headache
* movement disorders
* tremor
* visual disturbances
* abnormal EEG.

ee also

* Multiple hamartoma syndrome

References

External links

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