Hurley-Novatny Amelia, Karantanas Apostolos H, Papadakis Georgios Z, Bhattacharyya Timothy, Jha Smita
Clinical and Investigative Orthopedics Surgery Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health Bethesda Maryland USA.
Medical Scientist Training Program, Carver College of Medicine University of Iowa Iowa City Iowa USA.
JBMR Plus. 2021 Feb 18;5(4):e10472. doi: 10.1002/jbm4.10472. eCollection 2021 Apr.
Melorheostosis is a rare disease of bone overgrowth that is primarily diagnosed based on imaging studies. Recently, the association of different radiological patterns of the disease with distinct genetic cause was reported. Several case reports have described the radiological findings in patients with melorheostosis. However, the added value of cross-sectional imaging with CT and MRI beyond X-rays has not been investigated. The aim of the current study was to investigate this existing gap in knowledge. Forty patients with melorheostosis seen at the National Institute of Health Clinical Center were included in the study, and all their imaging studies were analyzed. The sequence of interpretation was X-ray followed by CT and then MRI. CT images were extracted from whole-body 18F-sodium fluoride positron emission tomography/CT studies. The information from CT reclassified the initial X-rays based radiological pattern in 13 patients. Additionally, CT comprehensively identified joint involvement and disease extent. In 76% of patients ( = 29) who underwent MRI, additional findings were noted, ranging from soft tissue edema to identification of soft tissue masses and incidental findings. MRI did not provide additional information on skeletal lesions beyond CT scans. However, it revealed the extension of soft tissue ossification into ischiofemoral space in four patients who complained of deep gluteal pain consistent with ischiofemoral impingement syndrome. In addition, MRI revealed soft tissue edema in 20 patients, 9 of whom had bone marrow edema and periosteal edema in the tibias consistent with shin splints. These findings suggest that select patients with melorheostosis should be evaluated with both CT and MRI, particularly patients in whom the distribution of pain does not correlate with the anatomic location of the disease in plain radiographs. © 2021 The Authors. published by Wiley Periodicals LLC. on behalf of American Society for Bone and Mineral Research.
肢骨纹状肥大是一种罕见的骨过度生长疾病，主要通过影像学检查进行诊断。最近，有报道称该疾病的不同放射学模式与不同的遗传病因有关。已有多篇病例报告描述了肢骨纹状肥大患者的放射学表现。然而，CT和MRI等横断面成像相对于X线检查的附加价值尚未得到研究。本研究的目的是调查这一现存的知识空白。本研究纳入了在美国国立卫生研究院临床中心就诊的40例肢骨纹状肥大患者，并对他们所有的影像学检查进行了分析。解读顺序为X线检查，然后是CT检查，最后是MRI检查。CT图像取自全身18F - 氟化钠正电子发射断层扫描/CT研究。CT提供的信息对13例患者最初基于X线检查的放射学模式进行了重新分类。此外，CT全面识别了关节受累情况和疾病范围。在接受MRI检查的患者中，76%（n = 29）有额外发现，范围从软组织水肿到软组织肿块的识别以及偶然发现。MRI并未提供超出CT扫描的关于骨骼病变的额外信息。然而，它显示4例主诉深部臀肌疼痛且符合坐骨股骨撞击综合征的患者存在软组织骨化延伸至坐骨股骨间隙。此外，MRI显示20例患者存在软组织水肿，其中9例胫骨有骨髓水肿和骨膜水肿，符合胫骨应力综合征。这些发现表明，部分肢骨纹状肥大患者应同时接受CT和MRI评估，尤其是那些疼痛分布与平片上疾病解剖位置不相关的患者。© 2021作者。由Wiley Periodicals LLC代表美国骨与矿物质研究学会出版。
