类似僵人综合征的中枢神经系统表面含铁血黄素沉积症

Superficial siderosis of central nervous system similar to stiff-person syndrome

该文报道一例临床表现类似僵人综合征的中枢神经系统表面含铁血黄素沉积症。患者为男性,27岁,因“双耳听力下降伴行走困难4年”入院。患者临床表现为进行性感应神经性耳聋、小脑性共济失调及脊髓病变,肌张力明显升高,导致脊柱前突,类似僵人综合征。头颅及脊髓MRI显示中脑、桥脑、小脑蚓部及脑沟内,双侧岛叶、颞叶以及脊髓表面均可见条形短T2信号环绕。该例患者脊髓的损害除了累及脊髓的皮质脊髓束、脊髓丘脑束、脊髓侧角外,还主要累及到脊髓的中间神经元,从而出现僵人综合征样表现。

This paper reported a case of superficial siderosis of the central nervous system, manifesting like stiff-person syndrome. The patient was a 27-year-old man, who was admitted for the complaint of 4 years of progressively hearing loss and walking difficulty. Clinically, the patient manifested as a combination of sensorineural deafness, cerebellar ataxia, and myelopathy. Severe muscle rigidity or stiffness most prominently affecting the spine resulted in lordosis, manifesting like stiff-person syndrome. Brain and spinal cord MR1 revealed low signal intensity on the surface of the cerebellum, brain stem, bilateral insular lobe, temporal lobe, and the spinal cord. The spinal cord intermediate neurons dysfunction appeared in this case, which resulted in the stiff-person syndrome-like manifestation.