Lhermitte-Duclos disease

2001-10-01 Michel Longy Affiliation

Unite de Genetique Oncologique, Institut Bergonie, 180, rue de Saint-Genes, 33076 Bordeaux, France

Identity

Name

Alias

Dysplastic gangliocytoma of the cerebellum

Note

Lhermitte-Duclos disease may either be considered as a Cancer Prone disease (herein described) with an autosomal dominant inheritance mode or as a Solid Tumor on itself (see Dysplastic gangliocytoma of the cerebellum).

Inheritance

Sporadic, or autosomal dominant if associated with Cowden disease

Omim

158350

Mesh

D006223

Orphanet

65285 Lhermitte-Duclos disease

Umls

C0391826;C1266181

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

Expression

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

Article Bibliography

Pubmed ID	Last Year	Title	Authors
5345120	1969	Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum) pathological analysis of the first familial cases.	Ambler M et al
11516554	2001	Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum).	Nowak DA et al
1859181	1991	Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.	Padberg GW et al