Myotonic Dystrophy Type 1 Associated with White Matter yperintense Lesions： Clinic, Imaging, and Genetic Analysis

Myotonic dystrophy （DM） is a chronic, slowly progressing, highly variable, inherited multisystemic disease, which includes two main types： DM type 1 （DM1） and DM type 2 （DM2）. Both DM 1 and DM2 are autosomal dominantly inherited disorder. DM1, also called Steinert disease, is characterized by myotonia, muscle weakness, muscular dystrophy, endocrinopathy, cataract, cardiac conduction defect, central nervous system （CNS） dysfunction, and so on.

Features of hyperintense white matter lesions and clinical relevance in systemic lupus erythematosus

Background: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by complex and various clinical manifestations. The study aimed to analyze clinical features and cerebral magnetic resonance imaging (MRI) changes of hyperintense white matter (WM) lesions in SLE patients.Methods: This was a retrospective study based on a consecutive cohort of 1191 SLE patients;273 patients for whom cerebral MRI data were available were enrolled to assess hyperintense WM lesions associated with SLE. Patients were assigned to two groups, ie, with or without hyperintense WM lesions. The MRI assessment showed that the hyperintense WM lesions could be classified into three categories: type A, periventricular hyperintense WM lesions;type B, subcortical hyperintense WM lesions;and type C, multiple discrete hyperintense WM lesions. The clinical and MRI characteristics were analyzed. Factors related to hyperintense WM lesions were identified by multivariate logistic regression analysis.Results: Among the 273 SLE patients with available cerebral MRI scans, 35.9% (98/273) had hyperintense WM lesions associated with SLE. The proportions of types A, B, and C were 54.1% (53/98), 11.2% (11/98), and 92.9% (91/98), respectively. Fifty-one percents of the patients showed an overlap of two or three types. Type C was the most common subgroup to be combined with other types. Compared with those without hyperintense WM lesions, the patients with hyperintense WM lesions were associated with neuropsychiatric SLE (NPSLE), lupus nephritis (LN), hypertension, and hyperuricemia (P = 0.002,P = 0.018,P = 0.045, andP = 0.036, respectively). Significantly higher rates of polyserous effusions and cardiac involvement were found in the patients with hyperintense WM lesions (P = 0.029 andP = 0.027, respectively), and these patients were more likely to present with disease damage (P < 0.001). In addition, the patients with hyperintense WM lesions exhibited a higher frequency of proteinuria (P = 0.009) and higher levels of CD8+ T cells (P = 0.005). In the multivariate logistic analysis, hyperuricemia and higher CD8+ T cells percentages were significantly correlated with hyperintense WM lesions in SLE patients (P= 0.019;OR 2.129, 95% confidence interval [CI] 1.313-4.006 andP < 0.001;OR 1.056, 95% CI 1.023-1.098, respectively).Conclusions: Hyperintense WM lesions are common in SLE patients and significantly associated with systemic involvement, including NPSLE, LN, polyserous effusions, cardiac involvement, and disease damage. Hyperuricemia and a higher number of CD8+ T cells were independent factors associated with hyperintense WM lesions in SLE.