Lhermitte-Duclos disease

Lhermitte-Duclos disease is a rare syndrome of cerebellar ganglia cyst formation, leading to enlargement and abnormal development of the cerebellum and increased intracranial pressure. The disease is a subtype of Cowden syndrome.

The manifestation usually takes place between the third and fourth decade of life.

Clinical symptoms include headache, nausea, hydrocephalus occlusus, ataxia, cerebellar dysfunction, visual disturbances, and cranial nerve palsy. Additional anomalies that may accompany concomitant disease include megalencephaly, microgyria, hydromyelia, partial gigantism, macroglossia, and polydactyly.