Marcinkowska Anna B, Jóźwiak Sergiusz, Sabisz Agnieszka, Tarasewicz Agnieszka, Rutkowska Beata, Dębska-Ślizień Alicja, Szurowska Edyta
Applied Cognitive Neuroscience Lab, Department of Neurophysiology, Neuropsychology and Neuroinformatics, Medical University of Gdańsk, Tuwima Str. 15, 80-210 Gdańsk, Poland.
2nd Department of Radiology, Medical University of Gdańsk, 80-210 Gdańsk, Poland.
Biomedicines. 2024 Sep 10;12(9):2061. doi: 10.3390/biomedicines12092061.
Tuberous sclerosis complex (TSC) is a neurocutaneous disease with a high incidence of epilepsy and damaging effects on cognitive development. To understand the mechanisms leading to abnormal cognitive development, diffusion tensor imaging (DTI) techniques have begun to be used in recent years. The present study is the first to investigate differences in the microstructure and integrity of white matter tracts in adult patients with TSC and with and without epilepsy.
A total of 37 patients with TSC (18 with epilepsy, median age 36 years; 19 without epilepsy, median age 35 years) without intellectual disability and autism spectrum disorder were included in the study. The control group (median age 34 years) comprised 37 individuals without psychiatric or neurodevelopmental disorders and neurological and cardiovascular diseases, diabetes, or addictions. A magnetic resonance imaging (MRI) DTI sequence was applied.
There were differences in the average values of DTI parameters between patients with TSC and epilepsy and patients with TSC but without epilepsy in five white matter bands. When comparing the average values of DTI parameters between patients with TSC and epilepsy and healthy controls, we found differences in 15 of 20 analysed white matter fibres. White matter tracts in patients with TSC and epilepsy had more abnormalities than in patients with TSC but without epilepsy. The former group presented abnormalities in longer white matter fibres, especially in the left hemisphere. However, the latter group presented abnormalities in more medial and shorter white matter fibres.
This DTI study documents the changes in the brain white matter of patients with TSC associated with the presence of epilepsy.
结节性硬化症（TSC）是一种神经皮肤疾病，癫痫发病率高，对认知发展有损害作用。为了解导致认知发展异常的机制，近年来开始使用扩散张量成像（DTI）技术。本研究首次调查了成年TSC患者有无癫痫时白质束微观结构和完整性的差异。
本研究纳入了37例无智力残疾和自闭症谱系障碍的TSC患者（18例有癫痫，中位年龄36岁；19例无癫痫，中位年龄35岁）。对照组（中位年龄34岁）由37名无精神或神经发育障碍、神经和心血管疾病、糖尿病或成瘾问题的个体组成。应用了磁共振成像（MRI）DTI序列。
在五个白质束中，TSC合并癫痫患者与TSC但无癫痫患者的DTI参数平均值存在差异。在比较TSC合并癫痫患者与健康对照的DTI参数平均值时，我们发现20条分析的白质纤维中有15条存在差异。TSC合并癫痫患者的白质束异常比TSC但无癫痫患者更多。前一组在更长的白质纤维中出现异常，尤其是在左半球。然而，后一组在更内侧和更短的白质纤维中出现异常。
这项DTI研究记录了TSC患者脑白质中与癫痫存在相关的变化。
