Lhermitte duclos disease true is
also called dysplastic gangliocytoma of the cerebellum, is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamaoma, characterized by diffuse hyperophy of the granular layer of the cerebellum. It is often associated with Cowden syndrome. Main clinical signs and symptoms include: headache movement disorders tremor 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 In Lhermitte-Duclos disease, the cerebellar coex loses its normal architecture, and forms a hamaoma in the cerebellar hemispheres. The tumors are usually found on the left cerebellar hemisphere, and consist of abnormal hyperophic 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. Ref Harrison20th edition pg 2334
Thickened cerebeller folli
Atrophic cerebeller folli
Vermian hypoplasia
Septum pelluidumagenesis
C.N.S