Galassi G, Gentilini M, Ferrari S, Ficarra G, Zonari P, Mongiardo N, Tommelleri G, Di Rienzo B
Department of Neurology, University of Modena, Italy.
Clin Neuropathol. 1998 May-Jun;17(3):131-5.
Although human retroviruses seem plausible agents of motor neuron diseases, there are only few reports of patients infected by the human immunodeficiency virus, with documented motor neuron disorder. That retroviral infections may cause motor neuron pathology by various mechanisms in animals and humans is known. Neurological symptoms potentially attributed to damage of lower motor neurons are often described during the course of HIV-1 infection and AIDS, however, it is often difficult to establish whether the disorder is primarily affecting the perikarya of lower motor neurons, or whether it is due to a focal proximal axonopathy, or to a dying-back process. We report a 30-year-old heroin abuser, HIV-1 positive, who presented a rapidly progressive limb weakness, muscle wasting, and bulbar signs, in absence of sensory loss of cerebellar and pyramidal signs. Imaging studies were negative. CSF showed increased protein content, negative cytology, and no oligoclonal bands. Serum protein electrophoresis, urinary heavy metal, and viral researches were negative. CD4 cells were counted 340 mm3 with a CD4-CD8 ratio equal to 0.4. Electrophysiology showed acute and chronic neurogenic changes, confirmed by muscle biopsy. Conduction studies along motor and sensory nerves fell within normal range. Biopsy of sural nerve revealed mild myelinated and unmyelinated fiber loss, occasional degeneration and regeneration, unremarkable inflammation. Despite treatment with AZT, zalcitabine, and steroids, the patient died after 3-month illness. Neuropathology showed normal cortical cell Betz's, and hemispheric white matter. Brain stem motor nuclei (inferior olival, dorsal motor of the vagus, hypoglossal) showed atrophy and intracytoplasmatic lipofuscin accumulation. Vacuolization, central chromatolysis, and neuronophagia were rarely seen. As associated pathology, in the fourth ventricle there were two small subependymal foci of demyelination, with reactive astrocytes and vascular proliferation. A possible crucial role of the HIV-1 infection in the development and progression of our patient's illness is considered in view of the known altered immunity proved in MND and ALS cases.
尽管人类逆转录病毒似乎可能是运动神经元疾病的致病因素，但仅有少数关于感染人类免疫缺陷病毒且有记录的运动神经元疾病患者的报告。已知逆转录病毒感染可通过多种机制在动物和人类中导致运动神经元病变。在HIV-1感染和艾滋病病程中，常描述有潜在归因于下运动神经元损伤的神经症状，然而，通常很难确定该疾病是否主要影响下运动神经元的胞体，或者是否是由于局灶性近端轴索性神经病，还是由于轴突逆行性变性过程。我们报告一名30岁的HIV-1阳性海洛因滥用者，其出现快速进展的肢体无力、肌肉萎缩和延髓体征，无感觉丧失、小脑和锥体束征。影像学检查结果为阴性。脑脊液显示蛋白含量增加、细胞学检查阴性且无寡克隆带。血清蛋白电泳、尿重金属及病毒检测均为阴性。CD4细胞计数为340/mm³，CD4-CD8比值为0.4。电生理显示急性和慢性神经源性改变，肌肉活检证实。运动和感觉神经的传导研究结果在正常范围内。腓肠神经活检显示轻度有髓和无髓纤维丢失、偶见变性和再生，炎症不明显。尽管接受了齐多夫定、扎西他滨和类固醇治疗，患者在患病3个月后死亡。神经病理学显示皮质细胞贝茨细胞及半球白质正常。脑干运动核（下橄榄核、迷走神经背运动核、舌下神经核）显示萎缩及胞质内脂褐素积聚。空泡化、中央性染色质溶解和噬神经元现象少见。作为相关病变，在第四脑室有两个小的室管膜下脱髓鞘病灶，伴有反应性星形胶质细胞和血管增生。鉴于在运动神经元病和肌萎缩侧索硬化病例中已证实的免疫改变，考虑到HIV-1感染在我们患者疾病发生和进展中可能起的关键作用。
