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Lhermitte–Duclos disease

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Lhermitte–Duclos disease

Lhermitte-Duclos disease
Classification and external resources
OMIM MeSH D006223

Lhermitte–Duclos disease (dysplastic gangliocytoma of the cerebellum, LDD) is a rare, slowly growing tumor of the cerebellum, sometimes considered as hamartoma, characterized by diffuse hypertrophy of the stratum granulosum of the cerebellum. It is often associated with Cowden syndrome.[1] It was described by Jacques Jean Lhermitte and P. Duclos in 1920.[2]

Epidemiology

Lhermitte–Duclos disease is a rare entity; approximately 221 cases of LDD have been reported in medical literature.[3] Symptoms of the disease most commonly manifest in the third and fourth decades of life, although it may onset at any age.[4] Men and women are equally affected, and there is not any apparent geographical patterns.[4]

Pathophysiology

In Lhermitte-Duclos disease, the cerebellar cortex loses its normal architecture, and forms a hamartoma in the cerebellar hemispheres. The tumors are usually found on the left cerebellar hemisphere, and consist of abnormal hypertrophic ganglion cells that are somewhat similar to Purkinje cells. The amount of white matter in the cerebellum is diminished.

Like cowden syndrome, patients with Lhermitte–Duclos disease often have mutations in enzymes involved in the Akt/PKB signaling pathway, which plays a role in cell growth.

Clinical signs

Main clinical signs and symptoms include:

Patients with Lhermitte–Duclos disease and cowden's syndrome may also have multiple growths on skin. The tumor, though benign, may cause neurological injury including abnormal movements.

MICROSCOPY(lhermitte-duclos disease) 1>Enlarged circumscribed cerebellar folia 2>internal granular layer is focally indistinct and is occupied by large ganglion cells 3>myelinated tracks in outer molecular layer 4>underlying white matter is atrophic and gliotic

Treatment

Treatment is not needed in the asymptomatic patient. Symptomatic patients may benefit from surgical debulking of the tumor. Complete tumor removal is not usually needed and can be difficult due to the tumor location.

History

The disease was first described in 1920 by Lhermitte and Duclos.[4]

See also

References

External links

  • Lhermitte-Duclos syndrome at Who Named It?
  • MedPix: Lhermitte-Duclos — Radiology and Pathology

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