Lhermitte-Duclos disease. A case report

Abstract

Lhermitte-Duclos disease is a rare pathologic condition consisting of a dysplastic gangliocytoma of the cerebellum. Its association with phacomatosis and an autosomal dominant neoplastic syndrome, Cowden's syndrome is also known. Modern neuroimaging contributes to a correct diagnosis and pre- and postoperative evaluation. Here we describe the morphologic and metabolic aspects of the disease as shown by conventional MRI, diffusion imaging and spectroscopy in a 31-year-old woman. In addition, the specific neuroradiologic characteristics are presented and discussed in the light of the main pathologic and clinical features, such as hypertrophy of the cerebellar folia associated with white matter atrophy.

Keywords: CT and MR imaging; Lhermitte-Duclos disease; brain tumor.

Figure 1

Unenhanced CT. Axial (A) and coronal (B) planes showing a hypodense infratentorial lesion with hyperdense streaks, mild edema and mass effect (black arrows).

Figure 2

Axial (A) and coronal (B) T2-weighted 1.5T MR planes. The lesion is hyperintense with parallel hypointense streaks indicating the thickening of the cerebellar folia and the cortical gyri with dysplastic sulci (white arrows).

Figure 3

A) In the DWI sequences, the lesion appears isointense because the level of free water does not change. B) After gadolinium injection, there is no enhancement because of the absence of brain-blood barrier changes, nor extracellular oedema.

Figure 4

The spectroscopic analysis reveals an increased Cho/Cr ratio, indicating cellular turnover; the NAA/Cr indicates demyelination and dysplasia; the lactate pick indicates anaerobic glycolysis.