Department of Advanced Biomedical Sciences, University of Naples "Federico II", Via Pansini, 5, 80131, Naples, Italy.
Medical, Surgical, and Dental Department, Università degli Studi di Salerno, Salerno, Italy.
Childs Nerv Syst. 2021 Dec;37(12):3963-3966. doi: 10.1007/s00381-021-05149-0. Epub 2021 Apr 3.
Noonan syndrome (NS) is an autosomal dominant disease caused by aberrant up-regulated signaling through RAS GTPase. It is characterized by facial dysmorphisms, short stature, congenital heart defects, malformations of rib cage bones, bleeding problems, learning difficulties, or mild intellectual disability. Additional intracranial findings in NS patients include tumors, midline anomalies, and malformations of cortical development. In this report, we present the case of a young female patient, with a known diagnosis of Noonan syndrome that in complete well being developed two brain lesions, in the right nucleus pallidus and in the left cerebellar hemisphere respectively, whose location and signal on MRI looked similar to neurofibromatosis type 1 unidentified bright objects (UBOs), and whose spectroscopic characteristics excluded neoplasms.
努南综合征（Noonan syndrome，NS）是一种常染色体显性疾病，由 RAS GTPase 信号通路异常上调引起。其特征为面部畸形、身材矮小、先天性心脏病、胸廓骨骼畸形、出血问题、学习困难或轻度智力障碍。NS 患者的颅内其他发现包括肿瘤、中线异常和皮质发育畸形。在本报告中，我们介绍了一位年轻女性患者的病例，该患者已知患有努南综合征，身体健康，但分别在右侧苍白球和左侧小脑半球形成了两个脑部病变，其在 MRI 上的位置和信号类似于神经纤维瘤病 1 型未识别的明亮物体（unidentified bright objects，UBOs），且其光谱特征排除了肿瘤。
