Lhermitte-Duclos disease
| Lhermitte-Duclos disease | |
 | |
|---|---|
| OMIM | 158350 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Dysplastic cerebellar gangliocytoma
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[1].
It was described by Jacques Jean Lhermitte and P. Duclos in 1920[2].
Epidemiology
Lhermitte-Duclos disease is a rare entity; approximately 220 cases of LDD have been reported in medical literature[3]. 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:
References
- ↑ Eng C (2000). "Will the real Cowden syndrome please stand up: revised diagnostic criteria". J Med Genet 37 (11): 828-30. PMID 11073535.
- ↑ 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.
- ↑ 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.
External links