Nakamura Masataka, Nakayama Kentaro, Murakami Aya, Morise Satoshi, Kaneko Satoshi, Kusaka Hirofumi, Yakushiji Yusuke
Department of Neurology, Kansai Medical University, 2-5-1 Shinmachi, Hirakata, Osaka 573-1010, Japan.
eNeurologicalSci. 2022 Jun 18;28:100413. doi: 10.1016/j.ensci.2022.100413. eCollection 2022 Sep.
An autopsy case of sporadic amyotrophic lateral sclerosis (ALS) with lower urinary tract (LUT) and bowel dysfunction is reported. The dysfunction occurred simultaneously with motor neuron symptoms in the early stages of the illness. A 75-year-old man developed exertional dyspnea and constipation following weight loss. Subsequently, he developed swallowing disturbance, fecal incontinence, and urinary retention. Neurological examination showed dysphagia, muscle weakness of the upper limbs, and prominent fasciculation affecting all four limbs and the tongue. All deep tendon reflexes were diminished, but the left plantar response was extensor. Orthostatic hypotension (OH) and the anal reflex were absent. Neuropathological findings did not show neuronal loss and gliosis in the thoracic and sacral intermediolateral nucleus (IML) and in Onuf's nucleus, whereas gliosis was observed in the periaqueductal gray (PAG) and striatum. Therefore, urinary retention may have resulted from involvement of the PAG. Phosphorylated TAR DNA binding protein 43 kDa (p-TDP-43)-positive inclusions were present in the peripheral nerves within the thoracic sympathetic ganglia, as well as the IML of the thoracic spinal cord. However, considering the lack of OH, the IML and peripheral sympathetic nerves unlikely played major roles. Furthermore, neuronal loss or p-TDP-43-immunoreactive deposits were absent in the Auerbach and Meissner plexuses of the rectum, suggesting that the responsible anatomical sites for fecal incontinence could not be found. Although it is difficult to elucidate the precise neuropathological lesions corresponding to LUT and bowel dysfunction, physicians need to recognize that neurogenic bladder and bowel dysfunction can occur in patients with ALS.
报告了一例患有下尿路（LUT）和肠道功能障碍的散发性肌萎缩侧索硬化症（ALS）尸检病例。该功能障碍在疾病早期与运动神经元症状同时出现。一名75岁男性在体重减轻后出现劳力性呼吸困难和便秘。随后，他出现吞咽障碍、大便失禁和尿潴留。神经系统检查显示吞咽困难、上肢肌肉无力，以及影响四肢和舌头的明显肌束震颤。所有深腱反射减弱，但左侧巴宾斯基征为伸性。存在体位性低血压（OH）且肛门反射消失。神经病理学检查结果显示，胸段和骶段中间外侧核（IML）以及奥努夫核中未出现神经元丢失和胶质细胞增生，而在导水管周围灰质（PAG）和纹状体中观察到胶质细胞增生。因此，尿潴留可能是由PAG受累所致。胸段交感神经节内的周围神经以及胸段脊髓的IML中存在磷酸化TAR DNA结合蛋白43 kDa（p-TDP-43）阳性包涵体。然而，考虑到OH的缺乏，IML和周围交感神经不太可能起主要作用。此外，直肠的奥尔巴赫和迈斯纳神经丛中未出现神经元丢失或p-TDP-43免疫反应性沉积物，这表明无法找到导致大便失禁的责任解剖部位。尽管难以阐明与LUT和肠道功能障碍相对应的确切神经病理学病变，但医生需要认识到ALS患者可能会出现神经源性膀胱和肠道功能障碍。
