Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings

Alec, Reginald Errol CorreaGupta, NeerjaBagri, NarendraPandiarajan, VigneshAlam, SeemaYamaguchi, Seiji2020-04-232020-04-232020-02Alec Reginald Errol Correa, Gupta Neerja, Bagri Narendra, Pandiarajan Vignesh, Alam Seema, Yamaguchi Seiji. Mevalonate Kinase Deficiency as Cause of Periodic Fever in Two Siblings. Indian Pediatrics. 2020 Feb; 57(2): 180-1810974-75590019-6061http://imsear.searo.who.int/handle/123456789/199488Mevalonate kinase deficiency (MKD) is a rare autosomalrecessive autoinflammatory disease caused by mutations inMVK. We report two siblings with MKD, presenting withrecurrent febrile illnesses, detected to have compoundheterozygous variants in MVK. MKD mimics common pediatricconditions and should be considered as a differential diagnosis.Hyper-IgD syndromePyrexia of unknown origin,Neonatal hepatitisPeriodic feverMevalonate Kinase Deficiency as Cause of Periodic Fever in Two SiblingsJournal ArticleIndiaAll India Institute of Medical Sciences, New Delhi, IndiaPostgraduate Institute of Medical Education and Research,Chandigarh, IndiaInstitute of Liver and Biliary Sciences,New Delhi, India; 4Shimane University School of Medicine89-1 En-ya-cho, Izumo Shimane, Japan, neerja17aiims@gmail.com