Magnetic resonance characteristics of adult-onset Lhermitte-Duclos disease: An indicator for active cancer surveillance?

Abstract

Lhermitte-Duclos disease ({LDD)} is a rare, non-cancerous entity characterized by enlarged, abnormally developed cerebellar folia containing dysplastic cells. Symptomatic {LDD} is commonly observed in adults (adult-onset {LDD}, {aLDD)} as an isolated condition or associated with Cowden's disease ({CD).} The present study aimed to investigate the magnetic resonance imaging ({MRI)} characteristics and the underlying pathological findings in 7 cases of {aLDD}, with emphasis on the association with {CD} and the need for active cancer surveillance once the diagnosis of {LDD} is confirmed. The {MRI} findings along with the clinical and histopathological data collected from 7 patients with {aLDD} were retrospectively reviewed. The diagnosis of {CD} was based on a range of clinical characteristics, according to the International Cowden Consortium Criteria. A thorough review of the published data was conducted and our results indicated that all 7 cases shared similar {MRI} characteristics, whether the {aLDD} was sporadic (2 cases) or associated with {CD} (5 cases), including a highly typical non-enhancing striated {MRI} appearance of thickened folia, consisting of alternating bands on T1- and T2-weighted images. On gross examination, the involved cerebellar folia were distorted and enlarged, whereas the histopathological examination revealed that the molecular layer was widened and occupied by abnormal ganglion cells. Moreover, a reduction in the number or absence of the Purkinje cells and hypertrophy of the granular cell layer were observed. Our findings were consistent with the diagnosis of {LDD.} Variable levels of vacuolization of the white matter and the molecular layer were observed in all the cases. Notably, {CD34} immunohistochemical analysis revealed the presence of angiogenesis within the lesions. {aLDD} associated with {CD} exhibited no pathological or immunohistochemical characteristics that were distinct from those of isolated {aLDD.} Of the 7 cases of {aLDD}, 5 presented with symptoms suggestive of {CD}, which is a syndrome associated with a high risk of multiple benign and malignant neoplasms. In conclusion, {aLDD} exhibits characteristic {MRI} and histopathological findings and displays a strong association with {CD.} Therefore, we recommend that the {MRI} diagnosis of {aLDD} triggers active cancer surveillance and preventive care.