Mijajlovic Milija, Bozovic Ivo, Pavlovic Aleksandra, Rakocevic-Stojanovic Vidosava, Gluscevic Sanja, Stojanovic Amalija, Basta Ivana, Meola Giovanni, Peric Stojan
Neurology Clinic, University Clinical Center of Serbia, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
Neurology Clinic, University Clinical Center of Serbia, Belgrade, Serbia.
Heliyon. 2024 Feb 22;10(5):e26856. doi: 10.1016/j.heliyon.2024.e26856. eCollection 2024 Mar 15.
Myotonic dystrophy type 1 (DM1) and 2 (DM2) are genetically determined progressive muscular disorders with multisystemic affection, including brain involvement. Transcranial sonography (TCS) is a reliable diagnostic tool for the investigation of deep brain structures. We sought to evaluate TCS findings in genetically confirmed DM1 and DM2 patients, and further correlate these results with patients' clinical features.
This cross-sectional study included 163 patients (102 DM1, 61 DM2). Echogenicity of the brainstem raphe (BR) and substantia nigra (SN) as well as the diameter of the third ventricle (DTV) were assessed by TCS. Patients were evaluated using the Hamilton Depression Rating Scale, Fatigue Severity Scale and Daytime Sleepiness Scale.
SN hyperechogenicity was observed in 40% of DM1 and 34% of DM2 patients. SN hypoechogenicity was detected in 17% of DM1 and 7% of DM2 patients. BR hypoechogenicity was found in 36% of DM1 and 47% of DM2 subjects. Enlarged DTV was noted in 19% of DM1 and 15% of DM2 patients. Older, weaker, depressive, and fatigued DM1 patients were more likely to have BR hypoechogenicity (p < 0.05). DTV correlated with age and disease duration in DM1 (p < 0.01). In DM2 patients SN hyperechogenicity correlated with fatigue. Excessive daytime sleepiness was associated with hypoechogenic BR (p < 0.05) and enlarged DVT (p < 0.01) in DM2 patients.
TCS is an easy applicable and sensitive neuroimaging technique that could offer new information regarding several brainstem structures in DM1 and DM2. This may lead to better understanding of the pathogenesis of the brain involvement in DM with possible clinical implications.
1型强直性肌营养不良（DM1）和2型强直性肌营养不良（DM2）是由基因决定的进行性肌肉疾病，会累及多系统，包括脑部。经颅超声检查（TCS）是用于研究深部脑结构的可靠诊断工具。我们旨在评估基因确诊的DM1和DM2患者的TCS检查结果，并将这些结果与患者的临床特征进一步关联起来。
这项横断面研究纳入了163例患者（102例DM1患者，61例DM2患者）。通过TCS评估脑干中缝（BR）和黑质（SN）的回声性以及第三脑室直径（DTV）。使用汉密尔顿抑郁量表、疲劳严重程度量表和日间嗜睡量表对患者进行评估。
在40%的DM1患者和34%的DM2患者中观察到SN回声增强。在17%的DM1患者和7%的DM2患者中检测到SN回声减弱。在36%的DM1受试者和47%的DM2受试者中发现BR回声减弱。在19%的DM1患者和15%的DM2患者中注意到DTV增大。年龄较大、身体较弱、抑郁且疲劳的DM1患者更有可能出现BR回声减弱（p<0.05）。在DM1中，DTV与年龄和病程相关（p<0.01）。在DM2患者中，SN回声增强与疲劳相关。在DM2患者中，日间过度嗜睡与BR回声减弱（p<0.05）和DVT增大（p<0.01）相关。
TCS是一种易于应用且敏感的神经成像技术，可为DM1和DM2中几个脑干结构提供新信息。这可能有助于更好地理解DM脑部受累的发病机制，并具有潜在的临床意义。
