Rakocevic-Stojanovic Vidosava, Peric Stojan, Savic-Pavicevic Dusanka, Pesovic Jovan, Mesaros Sarlota, Lavrnic Dragana, Jovanovic Zagorka, Pavlovic Aleksandra
Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, 6, Dr Subotica Street, 11000, Belgrade, Serbia.
Center for Human Molecular Genetics, Faculty of Biology, School of Medicine, University of Belgrade, Belgrade, Serbia.
Muscle Nerve. 2016 May;53(5):700-4. doi: 10.1002/mus.24927. Epub 2015 Nov 26.
The aim of this study was to analyze transcranial sonography (TCS) findings in genetically confirmed myotonic dystrophy type 2 (DM2) patients.
Forty DM2 patients and 38 gender- and age-matched healthy controls (HCs) underwent TCS through the pre-auricular acoustic bone window.
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 ± 1.0 mm, P < 0.05).
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.
本研究旨在分析经基因确诊的2型强直性肌营养不良（DM2）患者的经颅超声检查（TCS）结果。
40例DM2患者和38例年龄及性别匹配的健康对照者（HCs）通过耳前听骨窗接受TCS检查。
20%的DM2患者发现黑质回声增强，而HCs中这一比例为3%。与HCs相比，DM2患者中脑干中缝（BR）回声减低更为常见（56%对10%，P < 0.01），且在疲劳和日间过度嗜睡患者中更常见（P < 0.05）。与HCs相比，DM2患者的第三脑室直径增大（5.8 ± 1.7对5.1 ± 1.0 mm，P < 0.05）。
发现BR回声减低可能具有临床意义，因为其可能对5-羟色胺再摄取抑制剂有反应。TCS揭示了以前在MRI研究中未见的脑结构改变。
