Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review

Summary

Background. Lhermitte-Duclos Disease (LDD) is an infrequent cerebellar disorder characterized by focal or diffuse enlargement of cerebellar folia presenting as a slowly growing mass in the posterior fossa. Over the past decade its association with Cowden disease (CD) has been recognized with increasing frequency. This latter disease is a genetic condition leading to the presence of multiple hamartomas and neoplasias which affect mainly the skin, thyroid, breast and genito-urinary and gastro-intestinal tracts. It has even been hypothesized that LDD and CD constitute a single entity. This work is aimed to analyse to what extent this association was present in patients treated for LDD at our institution.

Method. We reviewed the medical records of five patients and performed clinical studies for CD manifestations, among them, genetic investigation for PTEN mutations. The International Cowden Consortium Criteria were applied for the diagnosis of CD.

Findings. Four of the five patients treated for LDD were also diagnosed of CD. The genetic study found PTEN mutations in two of them.

Interpretation. LDD has been found to be closely related to CD in this series, in accordance with previous literature. However, the absence of CD diagnosis in one of the patients led us to suggest that, despite the strong association between these two diseases, LDD can also appear as an isolated condition.