Savage Tim, Loftus Brendan G, Tormey Vincent, McDermott Michael F, Moylett Edina
Academic Department of Paediatrics, National University of Ireland, Galway, Ireland.
J Clin Rheumatol. 2008 Dec;14(6):342-5. doi: 10.1097/RHU.0b013e31817d109b.
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is one of a number of well described hereditary periodic febrile syndromes. We report a case in an infant, with a strong family history of this disorder, who presented on day-of-life 4 with high fever, irritability, diarrhea, lethargy, and raised acute phase reactants. An extensive work-up, including a full sepsis evaluation, proved negative. Symptoms resolved spontaneously. Representation with similar symptoms at 7 months of age prompted successful diagnosis after full evaluation. Subsequent genetic mutation analysis has proven positive for the T50M mutation in exon 2 of the TNFRSF1A gene. To our knowledge, this is the youngest reported age of presentation of this rare autoinflammatory disorder which should be considered even at such a young age.
肿瘤坏死因子受体相关周期性综合征（TRAPS）是众多已被充分描述的遗传性周期性发热综合征之一。我们报告了一例婴儿病例，该婴儿有这种疾病的家族病史，出生第4天出现高热、烦躁、腹泻、嗜睡及急性期反应物升高。包括全面败血症评估在内的广泛检查结果均为阴性。症状自行缓解。7个月大时再次出现类似症状，经全面评估后成功确诊。随后的基因突变分析证实TNFRSF1A基因外显子2中的T50M突变呈阳性。据我们所知，这是该罕见自身炎症性疾病报告的最小发病年龄，即使在如此小的年龄也应考虑到该病。
