Aguilar-Vázquez Crhistian Alejandro, Gallardo-González Liliana Ivonne, Raymundo-Carrillo Alejandra Diana, Reyes-Sosa Luis Carlos, Martínez-Romo Elizabeth Scarlette
Instituto Mexicano del Seguro Social, Centro Médico Nacional Siglo XXI, Hospital de Especialidades "Dr. Bernardo Sepúlveda Gutiérrez", Servicio de Neurología. Ciudad de México, México.
Petróleos Mexicanos, Hospital Regional PEMEX Poza Rica, Servicio de Medicina Interna. Poza Rica, Veracruz, México.
Rev Med Inst Mex Seguro Soc. 2023 Sep 4;61(5):677-684. doi: 10.5281/zenodo.8316479.
The Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex (ALS-PDC) was first described in the islands of Guam. This pathology presented its peak incidence in the 1950s. Due to the rarity of the association, we report a clinical case with this complex. The objective was to describe the nosological and pathogenic implications of these neurodegenerative disorder, since they are not frequent to find in our population.
We present a case of Latinoamerican origin who initially manifested systemic symptoms of more than 6 years of evolution, with subsequent cognitive alterations. Later, patient began with gait disturbances and motor symptoms suggestive of parkinsonism with atypical data and data of motor neurone disease (MND). More studies were carried out and confirmed findings compatible with upper and lower motor neuron involvement. A mutation in the POLG gene was observed, related to mitochondrial depletion syndrome.
Despite the knowledge of this association, it is an entity whose clinical diagnosis could be very difficult to achieve. In addition, molecular mechanisms have not been fully identified, the most common genes related to Parkinsonism and ALS have been excluded, and even attempts to locate the locus were made, without achieving accurate results. Unfortunately, being a neurodegenerative disease, the prognosis is fatal, with no disease-modifying treatment.
肌萎缩侧索硬化-帕金森病-痴呆综合征（ALS-PDC）最早在关岛被描述。这种病症在20世纪50年代发病率达到高峰。由于这种关联较为罕见，我们报告一例患有该综合征的临床病例。目的是描述这些神经退行性疾病在疾病分类学和病理学方面的影响，因为在我们的人群中并不常见。
我们呈现一例源自拉丁美洲的病例，该患者最初出现了长达6年多的全身性症状，随后出现认知改变。后来，患者开始出现步态障碍以及提示帕金森病的运动症状，伴有非典型表现和运动神经元病（MND）的数据。进行了更多研究并证实了与上下运动神经元受累相符的结果。观察到与线粒体耗竭综合征相关的POLG基因突变。
尽管了解这种关联，但这是一种临床诊断可能非常难以实现的病症。此外，分子机制尚未完全明确，与帕金森病和肌萎缩侧索硬化相关的最常见基因已被排除，甚至尝试定位基因座，但未取得准确结果。不幸的是，作为一种神经退行性疾病，预后是致命的，没有疾病修饰治疗方法。
