Lhermitte–Duclos disease (LDD) (), also called dysplastic gangliocytoma of the cerebellum, is a rare, slowly growing tumor of the

cerebellum The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as or even larger. In humans, the cerebel ...

, a

gangliocytoma Ganglioglioma is a rare, slow-growing primary central nervous system (CNS) tumor which most frequently occurs in the temporal lobes of children and young adults Classification Gangliogliomas are generally benign WHO grade I tumors; the presence o ...

sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. It is often associated with

Cowden syndrome Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, ...

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

Signs and symptoms

Main clinical signs and symptoms include: *

headache Headache is the symptom of pain in the face, head, or neck. It can occur as a migraine, tension-type headache, or cluster headache. There is an increased risk of depression in those with severe headaches. Headaches can occur as a result ...

* movement disorders *

tremor A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, fa ...

* visual disturbances * abnormal EEG * Diplopia 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

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. Mutation in PTEN gene on chromosome no. 10q leads to increased activity of AKT and mTOR pathways.

Diagnosis

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.

Epidemiology

Lhermitte–Duclos disease is a rare entity; approximately 222 cases of LDD have been reported in medical literature. Symptoms of the disease most commonly manifest in the third and fourth decades of life, although it may onset at any age. Men and women are equally affected, and there is not any apparent geographical pattern.

History

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

References

External links

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MedPix: Lhermitte-Duclos
�� Radiology and Pathology {{DEFAULTSORT:Lhermitte-Duclos Disease Deficiencies of intracellular signaling peptides and proteins Rare diseases Central nervous system disorders Genodermatoses