通过介绍朗格汉斯细胞组织细胞增生症的可能病例,概述在古代罕见疾病中准确诊断的重要性。
骨骼元素来自保存完好的9至11岁的骨骼,可能是生活在公元300-400年左右的女性儿童,晚期罗马纽堡/多诺(德国)。
宏观,放射学,使用了光学和扫描电子显微镜和物理技术。
吸收性缺陷,尤其是在头盖骨上,还有左髋骨和右股骨,在宏观和放射学上表明存在朗格汉斯细胞组织细胞增生症。根据微观研究和元素分析,沿着溶骨性病变边缘和二倍体空间中的形态变化似乎是死后的伪影。
重新评估病变的形态结构和元素构成对鉴别诊断至关重要。在这里检查的案件中,尸检结构的鉴定排除了朗格汉斯细胞组织细胞增生症的先前诊断。对罕见疾病病例的重新评估需要在分析过程中应用一系列方法,因为每一个病例都会影响这一小部分疾病的数量。
这项研究强调了利用不同的分析技术来避免错误诊断的重要性。
并非所有形态特征都可以使用显微镜和元素技术可靠地诊断。
对于难以诊断的罕见疾病,应始终使用尽可能广泛的技术,特别是显微镜。
To outline the importance of accurate diagnosis in ancient rare diseases by presenting a possible
case of Langerhans-cell histiocytosis.
Skeletal elements from a well-preserved skeleton of a nine to eleven-year-old, probably female child who lived around 300-400 AD Late Roman Neuburg / Donau (Germany).
Macroscopic, radiologic, light and scanning-electron microscopic and physical techniques were used.
Resorptive defects, particularly in the cranium, but also in the left hip bone and the right femur, suggest the presence of Langerhans-cell histiocytosis macroscopically and radiologically. The presence of morphological changes along the edges of osteolytic lesions and in the diploic spaces appear to be post-mortem artifacts based on microscopic investigation and elemental analysis.
Re-evaluation of morphological structures and elemental constitution of lesions is critical to differential diagnosis. In the
case examined here, the identification of post-mortem structures rules out the former diagnosis of Langerhans-cell histiocytosis. Re-evaluation of cases of rare diseases require applying a range of methods during the analysis, as every single
case makes a difference in the numbers of this very small group of diseases.
This study emphasizes the importance of utilizing different analytical techniques to avoid false diagnoses.
Not all morphological features can reliably be diagnosed using microscopic and elemental techniques.
In the
case of rare diseases that are difficult to diagnose, the widest possible spectrum of techniques should always be used, particularly microscopy.