Piotto Lino, Taranath Ajay
Department of Medical Imaging Women's and Children's Hospital Adelaide Australia.
Australas J Ultrasound Med. 2021 May 5;24(3):173-177. doi: 10.1002/ajum.12245. eCollection 2021 Aug.
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease, diagnosed by genetic testing. This is the first report in English literature wherein an ultrasound examination suggested this specific diagnosis. In this case, a two month old girl presented with bi-parieto-occipital swellings that were being managed as subgaleal haematoma. The parents were anxious that there was no resolution of the swellings. The suspicion of FOP was raised during the ultrasound examination where a review of the images prompted a questioning of the parents about other lesions in the body. Ultrasound examination of a lump in the thigh revealed calcifications in the vastus lateralis muscle. The appearances on the ultrasound combined with the presence of hallucis valgi suggested a diagnosis of FOP. The diagnosis was subsequently confirmed by genetic studies. This case highlights the need for good communication between the physician, patient and the imaging department.
进行性骨化性纤维发育不良（FOP）是一种极其罕见的结缔组织疾病，通过基因检测进行诊断。这是英文文献中首例通过超声检查提示该特定诊断的报告。在此病例中，一名两个月大的女童出现双侧顶枕部肿胀，最初按帽状腱膜下血肿进行处理。患儿父母因肿胀未消退而焦虑不安。在超声检查过程中，对图像的回顾促使医生询问患儿父母关于患儿身体其他病变的情况，从而引发了对FOP的怀疑。对大腿部肿块的超声检查显示股外侧肌有钙化。超声表现结合拇外翻的存在提示FOP的诊断。随后基因研究证实了该诊断。此病例凸显了医生、患者及影像科之间良好沟通的必要性。
