Abstract

Mevalonate kinase deficiency, known as hyperimmunoglobulinemia D syndrome originates from recessive mutations in the gene encoding mevalonate kinase enzyme. Hyperimmunoglobulinemia D syndrome cases are characterised by repeated attacks of fever with an intense inflammatory syndrome accompanied by lymphadenopathy, abdominal pain, diarrhea, arthralgia, hepatomegaly, splenomegaly, and skin rashes. The clinical phenotype in hyperimmunoglobulinemia D syndrome, which is an autoinflammatory disease, has a broad range depending on the severity of mevalonate kinase activity. However, only one case presenting with orchitis has been reported. The case here reported is of a paediatric hyperimmunoglobulinemia D syndrome patient with orchitis presenting with clinical testis torsion.

Cite as: Karakaya AE, Güler AG, Kaya MS, Güngör Ş. Hyperimmuno- globulinemia D syndrome presenting with acute scrotum: a case report. Coc Cer Derg/Turkish J Ped Surg 2022;36(1):55-57 doi: 10.29228/JTAPS.53680