Lhermitte-Duclos disease with obstructive hydrocephalus: An illustrative case treated with endoscopic ventriculo-cisternostomy

Sibille, Charles-Antoine Triffaux, Michel Claes, Kathleen Sznajer, Yves [UCL] Gille, Michel

(eng) Lhermitte-Duclos disease (LDD) is a rare tumor characterized by dysplastic expansion of ganglion cells within the cerebellum, leading to replacement of the internal granular cell layer and widening of the outer molecular layer (Lhermitte and Duclos, 1920, Robinson and Cohen, 2006). Over time, LDD has been identified as a major criterion for Cowden syndrome (CS), a Mendelian autosomal dominant hamartoma tumor condition where patients are at risk of developing mucocutaneous lesions, benign hamartomas, macrocephaly, and increased predisposition to cancers (Table 1). CS is caused by germline mutation in the tumor suppressor gene PTEN, located at 10q22-23 (Robinson and Cohen, 2006, Blumenthal and Dennis, 2008). We report a patient with a cerebellar dysplastic gangliocytoma (LDD) as phenotype variant of CS, revealed by an obstructive hydrocephalus.