Brain sonography insight into the midbrain in myotonic dystrophy type 2

Abstract

© 2016 Wiley Periodicals, Inc. Introduction: The aim of this study was to analyze transcranial sonography (TCS) findings in genetically confirmed myotonic dystrophy type 2 (DM2) patients. Methods: Forty DM2 patients and 38 gender- and age-matched healthy controls (HCs) underwent TCS through the pre-auricular acoustic bone window. Results: Substantia nigra hyperechogenicity was found in 20% of DM2 patients compared with 3% of HCs. Brainstem raphe (BR) hypoechogenicity was more common in DM2 patients compared with HCs (56% vs. 10%, P<0.01), and it was more common in patients with fatigue and excessive daytime sleepiness (P<0.05). Diameter of the third ventricle was increased in DM2 patients compared with HCs (5.8±1.7 vs. 5.1±1.0mm, P<0.05). Conclusions: Finding BR hypoechogenicity might have clinical implication because of the potential response to serotonin-reuptake inhibitors. TCS revealed alterations in brain structures previously not seen in MRI studies.