Berthier Marcelo L, Dávila Guadalupe, Torres-Prioris María José, Moreno-Torres Ignacio, Clarimón Jordi, Dols-Icardo Oriol, Postigo María J, Fernández Victoria, Edelkraut Lisa, Moreno-Campos Lorena, Molina-Sánchez Diana, de Zaldivar Paloma Solo, López-Barroso Diana
Cognitive Neurology and Aphasia Unit, Centro de Investigaciones Médico-Sanitarias, Instituto de Investigación Biomédica de Málaga (IBIMA), University of Malaga, Málaga, Spain.
Department of Psychobiology and Methodology of Behavioral Sciences, Faculty of Psychology, University of Malaga, Málaga, Spain.
Front Hum Neurosci. 2020 Mar 24;14:73. doi: 10.3389/fnhum.2020.00073. eCollection 2020.
The acquisition and evolution of speech production, discourse and communication can be negatively impacted by brain malformations. We describe, for the first time, a case of developmental dynamic dysphasia (DDD) in a right-handed adolescent boy (subject D) with cortical malformations involving language-eloquent regions (inferior frontal gyrus) in both the left and the right hemispheres. Language evaluation revealed a markedly reduced verbal output affecting phonemic and semantic fluency, phrase and sentence generation and verbal communication in everyday life. Auditory comprehension, repetition, naming, reading and spelling were relatively preserved, but executive function was impaired. Multimodal neuroimaging showed a malformed cerebral cortex with atypical configuration and placement of white matter tracts bilaterally and abnormal callosal fibers. Dichotic listening showed right hemisphere dominance for language, and functional magnetic resonance imaging (fMRI) additionally revealed dissociated hemispheric language representation with right frontal activation for phonology and bilateral dominance for semantic processing. Moreover, subject D also had congenital mirror movements (CMM), defined as involuntary movements of one side of the body that mirror intentional movements of the other side. Transcranial magnetic stimulation and fMRI during voluntary unimanual (left and right) hand movements showed bilateral motor cortex recruitment and tractography revealed a lack of decussation of bilateral corticospinal tracts. Genetic testing aimed to detect mutations that disrupt the development of commissural tracts correlating with CMM (e.g., Germline DCC mutations) was negative. Overall, our findings suggest that DDD in subject D resulted from the underdevelopment of the left inferior frontal gyrus with limited capacity for plastic reorganization by its homologous counterpart in the right hemisphere. Corpus callosum anomalies probably contributed to hinder interhemispheric connectivity necessary to compensate language and communication deficits after left frontal involvement.
大脑畸形可能会对言语产生、话语及交流的习得与发展产生负面影响。我们首次描述了一名右利手青少年男性(受试者D)患有发育性动态失语症(DDD)的病例,其大脑皮质畸形累及左右半球的语言表达区域(额下回)。语言评估显示,其言语输出显著减少,影响了音素和语义流畅性、短语和句子生成以及日常生活中的言语交流。听觉理解、复述、命名、阅读和拼写相对保留,但执行功能受损。多模态神经影像学显示大脑皮质畸形,双侧白质束的形态和位置异常,胼胝体纤维异常。双耳分听显示语言功能右半球优势,功能磁共振成像(fMRI)还显示半球语言表征分离,语音处理时右侧额叶激活,语义处理时双侧优势。此外,受试者D还患有先天性镜像运动(CMM),定义为身体一侧的非自主运动,与另一侧的有意运动镜像。在自愿单手(左和右)手部运动期间进行的经颅磁刺激和fMRI显示双侧运动皮层募集,神经束成像显示双侧皮质脊髓束缺乏交叉。旨在检测与CMM相关的连合束发育中断的突变(例如,种系DCC突变)的基因检测结果为阴性。总体而言,我们的研究结果表明,受试者D的DDD是由于左侧额下回发育不全,右侧半球同源区域的可塑性重组能力有限所致。胼胝体异常可能导致阻碍了左额叶受累后补偿语言和交流缺陷所需的半球间连接。