Sugumaran Ramkumar, Bhuvaneswaran Ragavendar
Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, IND.
Cureus. 2024 Jun 9;16(6):e62004. doi: 10.7759/cureus.62004. eCollection 2024 Jun.
Neuroacanthocytosis (NA) syndromes are a group of rare genetic disorders characterized by the presence of abnormally shaped red blood cells (acanthocytes) and the progressive degeneration of the basal ganglia, leading to various neurological and systemic symptoms. The "rubber man" gait, characterized by distinctive flexions of the neck (manifesting as head drops) and the trunk, is seen in advanced chorea-acanthocytosis. A 35-year-old male patient presented with progressive abnormal movements affecting his limbs and face, along with dysphagia resulting from involuntary protrusion of the tongue and biting of the cheeks and lips over the past three years. He used to place the food on the back of his tongue and throw his head back to begin swallowing. He also kept a towel in his mouth to absorb saliva and prevent cheek and lip biting. The neurologic examination revealed generalized chorea, severe orolingual dystonia (eating dystonia), and sudden loss of tone while walking, resulting in flexion of the trunk followed by extension. We believe that these features could serve as definitive clinical indicators for chorea-acanthocytosis, providing valuable diagnostic insights, especially when accompanied by self-mutilatory mouth movements or feeding-related tongue dystonia.
神经棘红细胞增多症(NA)综合征是一组罕见的遗传性疾病,其特征是存在异常形状的红细胞(棘红细胞)以及基底神经节的进行性退化,导致各种神经和全身症状。在晚期舞蹈病-棘红细胞增多症中可见“橡皮人”步态,其特征为颈部(表现为头部下垂)和躯干有独特的屈曲。一名35岁男性患者在过去三年中出现影响其四肢和面部的进行性异常运动,以及因舌头不自主伸出和咬脸颊及嘴唇导致的吞咽困难。他过去常常把食物放在舌后部,然后仰头开始吞咽。他还在嘴里放一条毛巾来吸收唾液,防止咬脸颊和嘴唇。神经系统检查发现全身性舞蹈病、严重的口面部肌张力障碍(进食性肌张力障碍)以及行走时突然肌张力丧失,导致躯干先屈曲后伸展。我们认为这些特征可作为舞蹈病-棘红细胞增多症的确切临床指标,提供有价值的诊断见解,尤其是当伴有自残性口腔运动或与进食相关的舌肌张力障碍时。