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1型神经纤维瘤病患者钆增强病变的消退

Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1.

作者信息

Lucchetta Marta, Manara Renzo, Perilongo Giorgio, Clementi Maurizio, Trevisson Eva

机构信息

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, via Giustiniani 5, 35128, Padua, Italy.

Neuroradiology, University of Salerno, Salerno, Italy.

出版信息

Radiol Med. 2016 Mar;121(3):214-7. doi: 10.1007/s11547-015-0587-0. Epub 2015 Oct 7.

Abstract

Neurofibromatosis type I is a genetic condition with an autosomal dominant transmission characterized by neurocutaneous involvement and a predisposition to tumor development. Central nervous system manifestations include benign areas of dysmyelination and possibly hazardous glial tumors whose clinical management may result challenging. Here, we report on three patients diagnosed with Neurofibromatosis type I whose brain MRI follow-up showed the presence of gadolinium-enhancing lesions which spontaneously regressed. In none of the three cases, the lesions showed any clinical correlate and eventually presented a striking reduction in size while gadolinium enhancement disappeared despite no specific therapy administration during the follow-up. Although their nature remains undetermined, these lesions presented a benign evolution. However, they might be misdiagnosed as potentially life-threatening tumors. Hitherto, a similar behavior has been described only in scattered cases and we believe these findings may be of particular interest for the clinical management of patients affected by neurofibromatosis type I.

摘要

I型神经纤维瘤病是一种常染色体显性遗传疾病,其特征为神经皮肤受累以及易患肿瘤。中枢神经系统表现包括脱髓鞘良性区域以及可能具有危险性的神经胶质瘤,其临床管理可能具有挑战性。在此,我们报告3例被诊断为I型神经纤维瘤病的患者,其脑部MRI随访显示存在钆增强病变,这些病变自发消退。在这3例病例中,病变均未显示出任何临床关联,最终在随访期间虽未给予任何特异性治疗,但病变大小显著减小,钆增强消失。尽管其性质尚未确定,但这些病变呈现出良性演变。然而,它们可能会被误诊为具有潜在生命威胁的肿瘤。迄今为止,类似的行为仅在少数散发病例中有所描述,我们认为这些发现可能对I型神经纤维瘤病患者的临床管理具有特别的意义。

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