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嗅球增大在 1 型神经纤维瘤病中的表现:一项新发现的报告。

Olfactory bulb enlargement in neurofibromatosis type 1: report of a novel finding.

机构信息

Department of Radiology, "Tortorella" Private Hospital, Salerno, Italy.

Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy.

出版信息

Childs Nerv Syst. 2021 Sep;37(9):2927-2930. doi: 10.1007/s00381-021-05077-z. Epub 2021 Feb 10.

Abstract

Neurofibromatosis type 1 (NF1) is a genetic autosomal dominant disease caused by mutation of the protein neurofibromin, a regulator of cell growth. The most frequent intracranial findings are unidentified bright objects (UBOs), thickening of the corpus callosum, sphenoid wing dysplasia, cerebral vasculopathy, optic and non-optic pilocytic astrocytomas, and plexiform neurofibromas. We report two cases of NF1 patients with asymptomatic olfactory bulbs (OBs) enlargement depicted with Magnetic Resonance Imaging (MRI). To the best of our knowledge, this finding has not been reported in the scientific literature so far. We hypothesize that olfactory bulbs enlargement may have a pathogenetic nature like that of the UBOs as in one of our patients there was spontaneous regression during follow-up. The olfactory bulbs enlargement expands the broad neuroradiological spectrum of finding of NF1. More reports are required to better understand incidence, pathogenesis, and clinical behavior of olfactory bulbs enlargement in NF1 patients.

摘要

神经纤维瘤病 1 型(NF1)是一种由神经纤维瘤蛋白突变引起的常染色体显性遗传疾病,该蛋白是细胞生长的调节剂。最常见的颅内表现为未明的亮区(UBOs)、胼胝体增厚、蝶骨翼发育不良、脑血管病、视神经和非视神经毛细胞星形细胞瘤以及丛状神经纤维瘤。我们报告了两例 NF1 患者无症状嗅球(OB)增大的病例,这些病例通过磁共振成像(MRI)显示。据我们所知,迄今为止,这一发现尚未在科学文献中报道。我们假设嗅球增大可能具有与 UBO 相同的发病机制,因为我们的一位患者在随访中自发消退。嗅球增大扩大了 NF1 的广泛神经放射学表现。需要更多的报告来更好地了解 NF1 患者嗅球增大的发生率、发病机制和临床行为。

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