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范可尼综合征伴脑白质肿胀为主要表现的可逆性胼胝体病变综合征 1 例

A case of reversible splenial lesion syndrome secondary to Fanconi syndrome with white matter swelling as the main manifestation.

机构信息

Department of Neurology, Harrison International Peace Hospital, Hengshui, Hebei, China.

Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.

出版信息

J Int Med Res. 2021 Jan;49(1):300060520985713. doi: 10.1177/0300060520985713.

Abstract

Reversible splenial lesion syndrome (RESLES) is a rare clinical imaging syndrome that is characterized by magnetic resonance imaging (MRI) findings of reversible abnormal signals in the splenium of the corpus callosum (SCC). There are a variety of pathogenic causes, including infection, metabolic disturbances, and antiepileptic drug use. Moreover, the disease is clinically rare and easily misdiagnosed. Here, we report a unique case of a 32-year-old man with Fanconi syndrome who had an intensified signal in the SCC and diffuse white matter swelling on MRI. We believe this to be the first adult case of RESLES as a manifestation of Fanconi syndrome, which further expands the disease spectrum leading to RESLES. The imaging features of this case included extensive lesions, symmetrical diffuse restricted signals, and reversibility. The identification of these features improves our understanding of the imaging characteristics of RESLES, thus enabling clinicians to better understand this disease, correctly establish its diagnosis, and improve its prognosis in this kind of patient.

摘要

可逆性胼胝体压部病变综合征(RESLES)是一种罕见的临床影像学综合征,其特征为磁共振成像(MRI)发现胼胝体压部(SCC)的可逆性异常信号。有多种致病原因,包括感染、代谢紊乱和抗癫痫药物的使用。此外,该疾病在临床上较为罕见,容易误诊。在这里,我们报告了一例 32 岁男性范可尼综合征患者,其 SCC 信号增强,MRI 显示弥漫性脑白质肿胀。我们认为这是首例成人 RESLES 作为范可尼综合征表现的病例,进一步扩大了导致 RESLES 的疾病谱。该病例的影像学特征包括广泛病变、对称弥漫性受限信号和可逆性。这些特征的识别提高了我们对 RESLES 影像学特征的认识,从而使临床医生能够更好地了解这种疾病,正确确立其诊断,并改善此类患者的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9798/7838877/5176e68c6a42/10.1177_0300060520985713-fig1.jpg

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