Lhermitte-Duclos disease

Abstract

Immunocytochemical studies were carried out on two previously reported autopsy cases of Lhermitte-Duclos disease. The unaffected cerebellar cortex adjacent to the lesions served as control. The findings supported the view, previously expressed by one of the authors, of a heterogeneous neuronal structure of the lesion, consisting of at least two cell types. No further light was thrown on the predominant medium-sized cells, believed to represent hypertrophic internal granular neurons. On the other hand the large cells shared a number of features with Purkinje cells. In particular they were recognized by the pan-T-cell antibody anti-Leu-4, were surrounded by axosomatic synapses visualized by the antisynaptic vesicle glycoprotein antibody SV2, and contained both non-phosphorylated and phosphorylated neurofilament epitopes. It is suggested that these cells represent dysplastic Purkinje cells. The lesion therefore appears to be a complex hamartoma rather than a simple hypertrophy of the internal granular neurons.

Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature.

“…Purkinje cells are scarce, and the myelinated axis of the cerebellar folia is atrophic. [2][3][4][5] The contrast between atrophy of the central white matter and hypermyelination of the superficial layer gives the typical "inverted cortex" appearance. Patients with Lhermitte-Duclos disease present clinically with signs and symptoms suggesting a slowly expanding lesion in the posterior fossa.…”