J Korean Neurosurg Soc.  2003 May;33(5):514-516.

Dysplastic Gangliocytoma of Cerebellum(Lhermitte-Duclos Disease): Relation to Cowden Disease

• Choi CY
• Whang KC
• Whang CJ
• Park SH

Abstract

We report a case of dysplastic gangliocytoma of the cerebellum(Lhermitte-Duclos disease) that can cause progressive mass effect in the posterior fossa. Cowden disease is a rare autosomal dominant disorder characterized by mucocutaneous hamartoma and high incidences of systemic malignancies. The patient had no mucocutaneous lesions indicating Cowden disease. With recent advances in molecular genetics, the association between Lhermitte-Duclos disease and Cowden disease has been recognized, it is considered that Cowden disease is a new phakomatosis. Recognition of this association has direct clinical relevance and long term follow up may lead to the early detection of malignancy.

Keyword

Dysplastic gangliocytoma of cerebellum; Cowden disease; Phakomatosis

MeSH Terms

Ganglioneuroma*
Hamartoma
Hamartoma Syndrome, Multiple*
Humans
Incidence
Molecular Biology
Neurocutaneous Syndromes