Lhermitte-Duclos disease: A series of six cases

Abstract

The Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is a rare lesion characterized by variable enlargement of cerebellar folia. The pathological basis of LDD has long been debated, as it has overlapping features of both, a neoplasm and hamartoma. Association between LDD and Cowden syndrome (CS) has been established based on the presence of phosphatase and tensin homologue germline mutation in both. We present a series of six cases of LDD: Four females and two males, aged between 16 and 38 years, presenting with headache and imbalance on walking of 1-7 months duration. Histomorphology showed thickening and vacuolation of the molecular layer, loss of Purkinje cells, and replacement of granular cell layer by large dysplastic ganglion cells. Awareness of histological features of this rare entity and a higher level of suspicion is required for the correct diagnosis, which, in turn, should prompt thorough investigations to exclude features of associated CS. LDD is a rare entity, awareness of its histological features and correlating them with radiology is essential, especially in tiny biopsies; to render the correct diagnosis. Diagnosis of LDD warrants further clinical workup and close follow-up for the associated features of CS.

Keywords: Cowden disease; Dysplastic gangliocytoma of cerebellum; Lhermitte-Duclos disease.

Figure 1:

(a) MRI-T1 weighted MRI of the brain showing a hyperintense lesion of right cerebellar hemisphere with striated folial pattern or tiger-striped appearance, (b) Gross-Enlarged cerebellar folia, (c) (squash cytology, H&E x 400) - scattered, enlarged cells with vesicular nuclei and prominent nucleoli against a fibrillary background, (d) (squash cytology, H&E x 400) - Thickened axons and capillary sized vessels.

Figure 2:

(a) H&E x40, (b) (H&E x100) - Show enlarged cerebellar folia with vacuolation of molecular and granular layer and loss of Purkinje cells, (c) (H&E x100) - aggregates of dysplastic neurons in molecular and granular layer, (d) (H&E x400) - Shows calcified vessel wall and vacuolation in background.

Figure 3:

(a) (H&E x100) - Shows aggregates of large dysmorphic neurons admixed with dense inflammation predominantly plasma cells, (b) (H&E x400) - show numerous dysplastic ganglion cells.