Panzer Stephanie, Thompson Randall C, Hergan Klaus, Zink Albert R, Piombino-Mascali Dario
Department of Radiology, Trauma Center Murnau, Prof.-Küntscher-Straße 8, D-82418 Murnau, Germany; Institute of Biomechanics, Trauma Center Murnau and Paracelsus Medical University, Salzburg, Prof.-Küntscher-Straße 8, D-82418, Murnau, Germany.
Saint Luke's Mid America Heart Institute, University of Missouri-Kansas City, Kansas City, 4401 Wornall Road, Kansas City, MO, 64111, USA.
Int J Paleopathol. 2018 Sep;22:78-85. doi: 10.1016/j.ijpp.2018.05.002. Epub 2018 Jun 8.
The authors report on the assessment of an anthropogenic mummy of a young man from the Capuchin Catacombs of Palermo, Sicily, tentatively dated from the mid- to late 19 century AD. The mummy was investigated by full-body CT examination. CT images clearly showed aortic dissection classified as Stanford-A. Due to the relation of aortic dissection to inherited connective tissue diseases in young people, such as Marfan syndrome, conspicuous and pathological findings possibly indicating the presence of underlying Marfan syndrome were assessed. Several systemic features were scored that supported the presence of underlying Marfan syndrome in this mummy. These findings were: pectus carinatum and chest asymmetry, dural ectasia, protrusio acetabuli, dolichocephaly, down-slanting palpebral fissures, malar hypoplasia and (probable) reduced elbow extension. Aortic dissection, a cardinal feature of Marfan syndrome, turned out to be the diagnostic key for the paleoradiological diagnosis of this disease. The demonstrated CT findings contribute to the spectrum of cardiovascular diseases and inherited connective tissue disease in the fields of paleopathology and paleoradiology.
作者报告了对一名来自西西里岛巴勒莫嘉布遣会地下墓穴的年轻男性人为木乃伊的评估，其年代初步定为公元19世纪中叶至晚期。通过全身CT检查对该木乃伊进行了研究。CT图像清晰显示为斯坦福A型主动脉夹层。鉴于年轻人的主动脉夹层与遗传性结缔组织疾病（如马凡综合征）有关，对可能表明存在潜在马凡综合征的明显病理特征进行了评估。对几个全身特征进行了评分，这些特征支持该木乃伊存在潜在的马凡综合征。这些特征包括：鸡胸和胸部不对称、硬脊膜扩张、髋臼前突、长头畸形、睑裂向下倾斜、颧骨发育不全以及（可能）肘部伸展受限。主动脉夹层是马凡综合征的主要特征，结果成为该病古放射学诊断的关键。所展示的CT结果有助于丰富古病理学和古放射学领域中心血管疾病和遗传性结缔组织疾病的范畴。
