Beckius Saralyn, Shah Kamran
Wayne State University School of Medicine, 540 E Canfield St., Detroit, MI 48201, USA.
Department of Radiology, Wayne State University School of Medicine, 540 E Canfield St., Detroit, MI 48201, USA.
Radiol Case Rep. 2018 Sep 13;13(6):1179-1184. doi: 10.1016/j.radcr.2018.07.030. eCollection 2018 Dec.
Leptomeningeal amyloidosis is a subset of familial transthyretin amyloidosis, a family of diseases occurring in conjunction with multiple known mutations of the transthyretin gene. Though this is primarily a disease of the central nervous system, amyloid deposition is multisystemic. We describe a case of a 61-year-old man with known central nervous system amyloidosis presenting to the emergency room with stroke-like symptoms, including left hemineglect, right gaze paresis, and left hemiplegia, atop baseline dementia. A noncontrast CT head demonstrated ventriculomegaly and no acute hemorrhage. Urinalysis indicated an underlying urinary tract infection, ultimately believed to have prompted a breakthrough seizure. Electroencephalogram revealed diffuse encephalopathy. Contrast-enhanced MRI demonstrated hallmarks of intracranial amyloid with no new infarct. Previously taken noncontrast CT neck and thorax demonstrated evidence of systemic disease.
软脑膜淀粉样变性是家族性转甲状腺素蛋白淀粉样变性的一个亚型，这是一类与转甲状腺素蛋白基因的多种已知突变相关的疾病。虽然这主要是一种中枢神经系统疾病，但淀粉样蛋白沉积是多系统的。我们描述了一例61岁男性病例，该患者已知患有中枢神经系统淀粉样变性，因出现类似中风的症状而前往急诊室，这些症状包括左侧偏侧忽视、右眼凝视麻痹和左侧偏瘫，同时伴有基线痴呆。头颅非增强CT显示脑室扩大且无急性出血。尿液分析表明存在潜在的尿路感染，最终认为是该感染引发了一次突破性癫痫发作。脑电图显示弥漫性脑病。增强MRI显示颅内淀粉样变性的特征且无新梗死灶。之前进行的颈部和胸部非增强CT显示了全身性疾病的证据。
