Lhermitte-Duclos disease

Other names	Dysplastic gangliocytoma of the cerebellum
Inheritance	Sporadic, or autosomal dominant if associated with Cowden disease

Clinics

Phenotype and clinics

Lhermitte-Duclos disease consists in the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma. Clinical manifestations are commonly a long standing history of vague defined neurological symptoms related to raised intracanial pressure and cerebellar signs affecting usually a young adult. Diagnosis is based on cerebral imaging methods, mainly NMR-imaging. Therapy consists of decompression of the posterior fossa by total surgical removal of the tumour mass. Histopathological finding confirm the diagnosis of dysplastic gangliocytoma of the cerebellum in front of a hamartoma lesion with widening of the molecular layer occupied by abnormal ganglion cells, absence of Purkinje cell layer and hypertrophy of granular layer. Related syndromes: Association with other lesions such as macrocephaly, polydactylia, multiple hemangioma, goiter, intestinal polyps was often observed. One case of familial cluster was reported. In fact, many cases of dysplastic cerebellar gangliocytoma are related to Cowden disease and such patients show various finding of this autosomal dominant condition with variable expression.

Neoplastic risk

In cases of Lhermitte-Duclos related to a Cowden disease, malignant tumours characterizing this affection (mainly breast carcinoma and thyroid carcinoma) can occur.

Genes involved and Proteins

 

Gene Name	PTEN (or MMAC1 or TEP1) in cases related to Cowden disease.
Location	10q23

Protein
Expression	403 amino-acids, phosphatase with tumor suppressive effects, negative regulator of the PI3K/Akt signal cell pathway by dephosphorylating PIP3

External links

OMIM

158350

Bibliography

Sur un ganglioneurome diffus du cortex du cervelet.

Lhermitte J, Duclos P

Bull Assoc Fr Etud Cancer. 1920 ; 9 : 99-107.

Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum) pathological analysis of the first familial cases.

Ambler M, Pogacar S, Sidman R

Journal of neuropathology and experimental neurology. 1969 ; 28 (4) : 622-647.

PMID 5345120

Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.

Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC

Annals of neurology. 1991 ; 29 (5) : 517-523.

PMID 1859181

Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum).

Nowak DA, Trost HA, Porr A, Stˆlzle A, Lumenta CB

Clinical neurology and neurosurgery. 2001 ; 103 (2) : 105-110.

PMID 11516554

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Contributor(s)

Written	10-2001	Michel Longy

Citation

This paper should be referenced as such :

Longy M . Lhermitte-Duclos disease. Atlas Genet Cytogenet Oncol Haematol. October 2001 . URL : http://AtlasGeneticsOncology.org/Genes/LhermitteDuclID10065.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Tue Jul 15 09:27:28 2008

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