Lhermitte Duclos Disease in the Absence of Cowdens - A Varied Presentation

Abstract

Background: Lhermitte-Duclos is a rare hamartomatous lesion of the cerebellar cortex with both neoplastic and hamartomatous features. Also known as dysplastic cerebellar gangliocytoma, they usually occur in the setting of Cowden’s syndrome, an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs. Although enlargement of the internal granular layer of the cerebellum is a consistent finding in our case, the background setting of Cowden’s syndrome was not present in our case. Case description: We present a unique case of LDD in the absence of Cowdens syndrome in a 58-year old gentleman who presented with cerebellar signs, a first to be reported in literature. Here we describe our clinical vignette. C onclusion: Most of the cases of LDD, reported in literature, were associated with Cowdens disease, however our case is the first to present without Cowdens disease. To date no other similar cases have been reported in literature.