Birmingham Women's and Children's NHS Foundation Trust University of Birmingham, Birmingham, UK.
Pediatr Rheumatol Online J. 2022 Jul 15;20(1):49. doi: 10.1186/s12969-022-00707-5.
We report a three-year-old girl with a potentially unique phenotype of perinatal onset and neurovascular features who was found to have PAMI syndrome. We also compare her case to those previously reported and review the differences between the PSTPIP1-associated inflammatory diseases (PAID) phenotypes and genotypes.
The patient was found to have a heterozygous pathogenic variant in PSTPIP1 (c.748G > A p.E250K). This variant was shown to be absent in both parents and therefore de novo in the patient. A literature review was carried out through multiple databases using the terms PSTPIP1, PAID, PAPA syndrome and PAMI syndrome. This information was collected and used to form comparisons between the current literature and our reported case.
Our case contributes to the literature on PAMI syndrome whilst providing an example of a potentially unique clinical phenotype, giving insight into the pre-symptomatic phase of the condition. We highlight the importance of considering PAMI syndrome in the differential for early onset unexplained inflammation. In addition, we explore the possibility that perinatal neurovascular events could be an early feature of PAMI syndrome.
我们报告了一例具有潜在独特围产期发病和神经血管特征的三岁女孩，该患者被发现患有 PAMI 综合征。我们还将她的病例与之前报道的病例进行了比较，并回顾了 PSTPIP1 相关炎症性疾病（PAID）表型和基因型之间的差异。
该患者被发现携带 PSTPIP1 杂合致病性变异（c.748G > A p.E250K）。该变异在父母双方均不存在，因此为患者的新生突变。通过多个数据库使用术语 PSTPIP1、PAID、PAPA 综合征和 PAMI 综合征进行了文献回顾。收集了这些信息并用于对当前文献和我们报告的病例进行比较。
我们的病例为 PAMI 综合征的文献做出了贡献，同时提供了一个潜在独特临床表型的范例，深入了解了该疾病的亚临床阶段。我们强调了在早期不明原因炎症的鉴别诊断中考虑 PAMI 综合征的重要性。此外，我们探讨了围产期神经血管事件可能是 PAMI 综合征的早期特征的可能性。
