Department of Neurology, Boston University School of Medicine, Boston, MA 02118, USA.
J Clin Neurosci. 2012 Mar;19(3):479-80. doi: 10.1016/j.jocn.2011.06.018. Epub 2012 Jan 16.
Multiple system atrophy-autonomic (MSA-A) is a typically spontaneous neurological disorder. The disease, distinguished by a "hot cross bun" sign on MRI, causes a series of autonomic dysfunctions including orthostatic hypotension and genitourinary and gastrointestinal problems. We present an 84 year-old woman with MSA-A symptoms who was positive for a "hot cross bun" sign. Genetic testing was used to rule out other possible ataxias. Importantly, the patient's two sisters also presented with similar symptoms indicating a possible autosomal dominant linkage. To our knowledge, this is the first report of hereditary MSA-A in the USA.
多系统萎缩-自主型（MSA-A）是一种典型的自发性神经疾病。该病的 MRI 特征为“十字面包征”，可引起一系列自主神经功能障碍，包括体位性低血压以及泌尿生殖和胃肠道问题。我们报告了一例 84 岁 MSA-A 症状女性患者，其 MRI 呈“十字面包征”阳性。遗传检测排除了其他可能的共济失调。重要的是，该患者的两位姐妹也表现出类似症状，提示可能存在常染色体显性遗传。据我们所知，这是美国首例遗传性 MSA-A 的报告。
