Arslan Kübra, Sarici Serdar Ümit, Kolukisa Gonca, Altun Demet
Department of Pediatrics, Ufuk University Faculty of Medicine, Ankara, Turkey.
Case Rep Pediatr. 2020 Dec 14;2020:6649525. doi: 10.1155/2020/6649525. eCollection 2020.
Familial Mediterranean fever (FMF) is an autosomal recessively inherited disorder characterized by recurrent fever and attacks of abdominal pain, chest pain, and joint pain. Attacks of recurrent fever and serositis are encountered clinically. Attacks may present either with only one symptom or many simultaneous symptoms. Although most of the patients are diagnosed clinically above the age of 2, those cases who are diagnosed before 2 years of age and with clinical course of isolated fever are believed to have a more serious course and tend to develop amyloidosis. In this article, a case who was admitted first on the 22nd day of life and later diagnosed to have FMF with recurrent attacks of isolated fever and no other focus is presented. We emphasize that FMF may present as early as in the first month of life, and it should be considered in cases presenting with fever of unknown origin and misdiagnosed to have late neonatal sepsis or occult bacteremia at this age group.
家族性地中海热（FMF）是一种常染色体隐性遗传疾病，其特征为反复发热以及腹痛、胸痛和关节痛发作。临床上会遇到反复发热和浆膜炎发作的情况。发作可能仅表现为一种症状，也可能同时出现多种症状。尽管大多数患者在2岁以上被临床诊断，但那些在2岁之前被诊断且临床过程为单纯发热的病例，被认为病程更为严重，且倾向于发展为淀粉样变性。本文介绍了一例在出生第22天首次入院，后来被诊断为FMF的病例，该病例反复出现单纯发热且无其他病灶。我们强调FMF可能早在出生后第一个月就出现，对于这个年龄组中出现不明原因发热且被误诊为晚发性新生儿败血症或隐匿性菌血症的病例，应考虑到FMF的可能。
