Salerno Sergio, Terranova Maria Chiara, Rossello Mario, Piccione Maria, Ziino Ottavio, Re Giuseppe Lo
Department of Radiology, University Hospital Paolo Giaccone, I-90127 Palermo, Italy.
Department of Radiology, 'Civico-Di Cristina-Benfratelli' Municipal Hospital, I-90127 Palermo, Italy.
Mol Clin Oncol. 2017 Apr;6(4):579-582. doi: 10.3892/mco.2017.1171. Epub 2017 Feb 17.
Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend on the involved sites: Myofibromatosis may develop as a musculoskeletal form, with non-painful swellings and eventual mass effect symptoms, or as a generalized form with visceral involvement and organ failure. Prognosis and therapy vary between the abovementioned patterns. When there is no visceral involvement, the tumors may regress spontaneously; however, the visceral form may represent a lifethreatening condition with poor outcome and it requires aggressive management. Imaging assessment of disease spread is mandatory to determine diagnosis, prognosis and therapy. Due to the young age of the patients, a radiation-free evaluation is recommended. We herein describe a case of musculoskeletal myofibromatosis diagnosed in a 3-month-old male infant, investigated by serial wholebody magnetic resonance imaging (MRI) examination. The histological analysis and MRI characteristics enabled a correct diagnosis and organ involvement assessment with no radiation exposure. Moreover, whole-body MRI sequences provided a detailed evaluation of the disease within a short time frame, reducing the time of sedation, which is required to perform MRI in very young patients. Therefore, whole-body MRI was found to be accurate and safe in the diagnosis and follow-up of multicentric infantile myofibromatosis.
肌纤维瘤病是一种罕见的婴儿期疾病,其特征是肌成纤维细胞在单个或多个结节中增殖。临床特征取决于受累部位:肌纤维瘤病可表现为肌肉骨骼型,出现无痛性肿胀并最终出现肿块效应症状,或表现为累及内脏并导致器官衰竭的全身型。上述两种类型的预后和治疗方法有所不同。当没有内脏受累时,肿瘤可能会自发消退;然而,内脏型可能是一种危及生命的疾病,预后较差,需要积极治疗。对疾病扩散进行影像学评估对于确定诊断、预后和治疗至关重要。由于患者年龄较小,建议进行无辐射评估。我们在此描述一例3个月大男婴诊断为肌肉骨骼型肌纤维瘤病的病例,通过系列全身磁共振成像(MRI)检查进行了研究。组织学分析和MRI特征使得在无辐射暴露的情况下能够做出正确诊断并评估器官受累情况。此外,全身MRI序列在短时间内提供了对疾病的详细评估,减少了在非常年幼的患者中进行MRI所需的镇静时间。因此,发现全身MRI在多中心婴儿肌纤维瘤病的诊断和随访中准确且安全。