Similar MR imaging characteristics but different pathological changes: a misdiagnosis for Lhermitte-Duclos disease and review of the literature

Abstract

Although previous reports purpored that the unique magnetic resonance imaging (MRI) features of Lhermitte-Duclos disease (LDD) obviates the need for biopsy, we have made a misdiagnosis of LDD which has an indistinguishable imaging appearance. We present a patient who suffered from a normal cerebellum with arachnoid vascular malformation that had imaging characteristics which were indistinguishable from LDD before operation. This atypical imaging appearance, which could potentially be confused with LDD, may lead to misdiagnosis and inappropriate treatment in the absence of tissue sampling. Thus, this finding suggests that in those patients where images are highly suggestive of LDD but lack other manifestations of Cowden syndrome, biopsy is required and advanced imaging with magnetic resonance spectroscopy (MRS) should be strongly considered.

Keywords: Cowden syndrome; Lhermitte-Duclos disease; magnetic resonance imaging; misdiagnosis.

Figure 1

A. Axial T1-weighted MR image in the first patient shows the typical striated appearance, with hypo- and isointense bands. Note the abnormal hypointense area (arrows) in the region of the right cerebellar hemisphere. The fourth ventricle (arrowhead) is compressed. B. T2-weighted axial image in the first patient shows the right cerebellar lesion with the characteristic ‘tiger striped’ appearance. The inner hyperintense (white arrow) and the outer iso- to hypointense intense (black arrow) portions of the abnormal folia are to be noted. C. Contrast-enhanced T1-weighted axial image in the first patient shows the ‘vascular pattern’ of enhancement between the folia (white arrows). D. T1-weighted axial MR image in the second patient shows hypointense-to-isointense left cerebellar lesion with linear striations. Note the abnormal hypointense area (arrows) in the region of the left cerebellar hemisphere. E. T2-weighted axial image in the second patient shows the left cerebellar lesion with the characteristic ‘tiger striped’ appearance. The inner hyperintense (white arrow) and the outer iso- to hypointense intense (black arrow) portions of the abnormal folia are to be noted. F. Contrast-enhanced T1-weighted axial image in the second patient shows obvious heterogeneous enhancement of the linear striations (white arrows) interspersed within the hypodense linear areas.

Figure 2

A. High-power photomicrograph in the first patient showed loss of Purkinje cells, replacement of granular cells, hypertrophy of dysplastic ganglion cells with prominent nucleoli (black arrows) and expanded abnormal molecular layers. (Hematoxylin-eosin stain; original magnification, × 40). B. High-power photomicrograph in the second patient showed normal cerebellum with arachnoid vascular malformation (black arrow) and partial loss of Purkinje cells. (Hematoxylin-eosin stain; original magnification, × 40).