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Abstract：
Legius syndrome (LS) is a rare and underrecognized disorder that is often misdiagnosed as neurofibromatosis type 1 (NF1). It is characterized by café-au-lait macules without the tumoral manifestations of NF1. We report the case of an 11-year-old patient with multiple café-au-lait macules and intertriginous freckling who was admitted for bloody stools, joint pain, and weight loss. His clinical and endoscopic findings were consistent with inflammatory bowel disease (IBD). He also met the clinical diagnostic criteria for NF1 but not for LS. Genetic testing played a pivotal role in the differential diagnosis and revealed a loss-of-function mutation in the SPRED1 gene, confirming the diagnosis of LS. This is the first reported case of a patient with IBD and LS. The subtle manifestations of LS make it an underdiagnosed disease, which reduces the likelihood of it being diagnosed in association with other diseases, such as IBD. There are, however, 10 published case reports linking IBD and NF1, and some pathophysiological mechanisms have been proposed. Continued reporting will help clarify the relationship between IBD and RASopathies such as NF1 and LS.
摘要：
Legius综合征（LS）是一种罕见且未被识别的疾病，通常被误诊为1型神经纤维瘤病（NF1）。它的特征是无NF1的肿瘤表现的咖啡壶斑。我们报告了一名11岁的患者，该患者患有多个咖啡斑和多斑雀斑，因血便入院，关节痛,和减肥。他的临床和内镜检查结果与炎症性肠病（IBD）一致。他还符合NF1的临床诊断标准，但不符合LS的临床诊断标准。基因检测在鉴别诊断中起着关键作用，并揭示了SPRED1基因的功能缺失突变，确认LS的诊断。这是第一个报告的IBD和LS患者病例。LS的微妙表现使其成为未被诊断的疾病，这降低了它被诊断为与其他疾病相关的可能性，比如IBD。有,然而,已发表的10例病例报告将IBD和NF1联系起来，并提出了一些病理生理机制。持续的报告将有助于澄清IBD和RASopathies（如NF1和LS）之间的关系。
