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儿科患者梅尔基奥尔森-罗森塔尔综合征的罕见诊断。

Rare diagnosis of Melkersson-Rosenthal syndrome in a paediatric patient.

机构信息

Pediatrics, Medical Center Navicent Health, Macon, Georgia, USA

Pediatrics, Mercer University, Macon, Georgia, USA.

出版信息

BMJ Case Rep. 2021 Jun 11;14(6):e238431. doi: 10.1136/bcr-2020-238431.

Abstract

Melkersson-Rosenthal syndrome (MRS) is a rare neurocutaneous syndrome characterised by the triad of recurrent orofacial swelling, facial nerve palsy and fissured tongue. This diagnosis is particularly rare in children. We aim to increase awareness of the syndromic association of these clinical features since most patients present with a monosymptomatic form, reiterating the importance of detailed history and thorough physical examination, for the timely identification of these patients. Not only the recurring of symptoms, but also the association of MRS with other medical conditions, make 'earlier' diagnosis of the Syndrome beneficial. The average delay in diagnosis is 4-9 years. Although most cases resolve without treatment, when treated,steroids are most commonly used. Variable options have been tried for refractory and frequently recurrent cases. We present a case of MRS in a 12-year-old girl, diagnosed 3 years after onset of symptoms. We reviewed updated literature for MRS and associated clinical conditions as well as published treatment options.

摘要

梅尔基奥尔森-罗森塔尔综合征(MRS)是一种罕见的神经皮肤综合征,其特征为复发性面颌肿胀、面神经瘫痪和裂舌三联征。这种诊断在儿童中尤为罕见。我们旨在提高对这些临床特征的综合征相关性的认识,因为大多数患者表现为单一症状,再次强调详细的病史和彻底的体格检查对于及时识别这些患者的重要性。不仅症状反复发作,而且 MRS 与其他医疗状况的关联使得“更早”诊断该综合征有益。平均诊断延迟为 4-9 年。尽管大多数病例未经治疗即可缓解,但在治疗时,最常使用类固醇。对于难治性和经常复发的病例,已经尝试了各种选择。我们报告了一例 12 岁女孩的 MRS 病例,该病例在症状出现 3 年后被诊断。我们回顾了 MRS 及相关临床情况的最新文献以及已发表的治疗选择。

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