Trojsi Francesca, Sagnelli Anna, Cirillo Giovanni, Piccirillo Giovanni, Femiano Cinzia, Izzo Francesco, Monsurrò Maria Rosaria, Tedeschi Gioacchino
Department of Neurology, Second University of Naples, 80138 Naples, Italy ; Magnetic Resonance Imaging Research Center SUN-FISM, Neurological Institute for Diagnosis and Care "Hermitage Capodimonte", 80131 Naples, Italy.
Case Rep Med. 2012;2012:324685. doi: 10.1155/2012/324685. Epub 2012 Dec 24.
The concurrence of amyotrophic lateral sclerosis (ALS) and multiple sclerosis (MS) is extremely rare. We reported the case of a 33-year-old woman with a past history of paresthesias at the right hand, who developed progressive quadriparesis with muscular atrophy of limbs and, finally, bulbar signs and dyspnea. Clinical and neurophysiologic investigations revealed upper and lower motor neuron signs in the bulbar region and extremities, suggesting the diagnosis of ALS. Moreover, magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analysis demonstrated 3 periventricular and juxtacortical lesions, hyperintense in T2 and FLAIR sequences, and 3 liquoral immunoglobulin G (IgG) oligoclonal bands, consistent with diagnosis of primary progressive MS (PPMS). This unusual overlap of ALS and MS leads to the discussion of a hypothetical common pathological process of immunological dysfunction in these two disorders, although the role of immune response in ALS remains ambivalent and unclear.
肌萎缩侧索硬化症（ALS）与多发性硬化症（MS）并发极为罕见。我们报告了一例33岁女性病例，该患者既往有右手感觉异常病史，后来出现进行性四肢瘫，伴有肢体肌肉萎缩，最终出现延髓症状和呼吸困难。临床和神经生理学检查显示延髓区域和四肢存在上下运动神经元体征，提示ALS诊断。此外，磁共振成像（MRI）和脑脊液（CSF）分析显示3个脑室周围和皮质下病变，在T2和液体衰减反转恢复（FLAIR）序列中呈高信号，以及3条脑脊液免疫球蛋白G（IgG）寡克隆带，符合原发性进行性MS（PPMS）的诊断。ALS与MS这种不寻常的重叠引发了对这两种疾病中免疫功能障碍这一假设性共同病理过程的讨论，尽管免疫反应在ALS中的作用仍存在矛盾且不明确。
