Abstract
BackgroundCerebral ventriculomegaly is an abnormal feature characteristic of myotonic dystrophy type 1 (DM1). This retrospective study investigated the morphologic changes accompanied by ventriculomegaly in DM1 on brain MRI.MethodsOne hundred and twelve adult patients with DM1 and 50 sex- and age-matched controls were assessed. The imaging characteristics for evaluations included the z-Evans Index (ventriculomegaly), callosal angle (CA), enlarged perivascular spaces in the centrum semiovale (CS-EPVS), temporo-polar white matter lesion (WML) on 3D fluid-attenuated inversion recovery (FLAIR), disproportionately enlarged subarachnoid-space hydrocephalus (DESH), and pathological brain atrophy. The “z-Evans Index” was defined as the maximum z-axial length of the frontal horns to the maximum cranial z-axial length. To determine the imaging characteristics and genetic information (CTG repeat numbers) that were associated with the z-Evans Index, we used binominal logistic regression analyses.ResultsThe z-Evans Index was significantly larger in the patients than in the controls (0.30 ± 0.05 vs. 0.24 ± 0.02; p < 0.01). The z-Evans Index was independently associated with the callosal angle (p < 0.01) and pathological brain atrophy (p < 0.01) but not with age, gender, CTG repeat numbers, or CS-EPVS. Of the 34 patients older than 49 years, 7 (20.6%) were considered to have DESH.ConclusionsOur MRI study revealed a normal pressure hydrocephalus (NPH)-like appearance as a morphologic finding accompanied by ventriculomegaly in DM1 that tends to occur in elderly patients.
Highlights
Cerebral ventriculomegaly is an abnormal feature characteristic of myotonic dystrophy type 1 (DM1)
The z-Evans Index was independently associated with the callosal angle (p < 0.01) and pathological brain atrophy (p < 0.01) but not with age, gender, CTG repeat numbers, or centrum semiovale (CS)-Enlarged perivascular spaces (EPVS)
These results suggest that the morphologic changes accompanied by ventriculomegaly in Myotonic dystrophy type 1 (DM1) patients are similar to those in patients with normal pressure hydrocephalus (NPH)
Summary
Cerebral ventriculomegaly is an abnormal feature characteristic of myotonic dystrophy type 1 (DM1). This retrospective study investigated the morphologic changes accompanied by ventriculomegaly in DM1 on brain MRI. Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults [1]. Iida et al BMC Neurosci (2021) 22:62 neurophysiological studies have demonstrated a variety of abnormalities of the central nervous system (CNS) in DM1 patients [3,4,5]. Previous MRI studies with DM1 demonstrated ventriculomegaly and "unusual" white matter lesions (WMLs) in the anterior or medial portions of the temporal lobes (temporo-polar WMLs) [6]. Enlarged perivascular spaces (EPVS) on MRI were seen in the centrum semiovale (CS) and basal ganglia in DM1 [7]
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