Lhermitte-Duclos disease

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Lhermitte-Duclos disease
OMIM 158350

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Dysplastic cerebellar gangliocytoma

Overview

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.

Historical Perspective

It was described by Jacques Jean Lhermitte and P. Duclos in 1920.

Epidemiology

Lhermitte-Duclos disease is a rare entity; approximately 220 cases of LDD have been reported in medical literature. It's most common in 3. and 4. decade of life.

Classification

Etiology

Cowden disease is caused by mutations of PTEN gene.

Clinical signs

Main clinical signs are:

References


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de:Lhermitte-Duclos-Syndrom

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