Cacchione Antonella, Carboni Alessia, Lodi Mariachiara, Vito Rita De, Carai Andrea, Marrazzo Antonio, Macchiaiolo Marina, Voicu Ioan Paul, Mastronuzzi Angela, Colafati Giovanna Stefania
Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Oncological Neuroradiology Unit, Department of Imaging, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Diagnostics (Basel). 2021 Feb 2;11(2):218. doi: 10.3390/diagnostics11020218.
We present a case demonstrating the performance of different radiographical imaging modalities in the diagnostic work-up of a patient with neurofibromatosis type 1 (NF1) and plexiform neurofibroma (PN). The newborn boy showed an expansive-infiltrative cervical and facial mass presented with macrocrania, craniofacial disfigurement, exophthalmos and glaucoma. A computer tomography (CT) and a magnetic resonance imaging (MRI) were performed. The CT was fundamental to evaluate the bone dysmorphisms and the MRI was crucial to estimate the mass extension. The biopsy of the lesion confirmed the suspicion of PN, thus allowing the diagnosis of NF1. PN is a variant of neurofibromas, a peripheral nerves sheath tumor typically associated with NF1. Even through currently available improved detection techniques, NF1 diagnosis at birth remains a challenge due to a lack of pathognomonic signs; therefore congenital PN are recognized in 20% of cases. This case highlights the importance of using different radiological methods both for the correct diagnosis and the follow-up of the patient with PN. Thanks to MRI evaluation, it was possible to identify earlier the progressive increasing size of the PN and the possible life threatening evolution in order to perform a tracheostomy to avoid airways compression.
我们报告了一例病例，展示了不同影像学检查方式在1型神经纤维瘤病（NF1）和丛状神经纤维瘤（PN）患者诊断检查中的表现。这名男婴出生时颈部和面部有一个呈膨胀浸润性生长的肿块，伴有巨头畸形、颅面畸形、眼球突出和青光眼。进行了计算机断层扫描（CT）和磁共振成像（MRI）检查。CT对于评估骨骼畸形至关重要，而MRI对于估计肿块范围至关重要。病变活检证实了PN的怀疑，从而得以诊断NF1。PN是神经纤维瘤的一种变体，是一种通常与NF1相关的周围神经鞘瘤。尽管目前有改进的检测技术，但由于缺乏特征性体征，出生时诊断NF1仍然是一项挑战；因此，20%的病例中可识别出先天性PN。该病例强调了使用不同放射学方法对于PN患者正确诊断和随访的重要性。多亏了MRI评估，得以更早地识别PN逐渐增大的尺寸以及可能危及生命的进展情况，从而进行气管切开术以避免气道受压。
