Periodic Fever in MVK Deficiency: A Patient Initially Diagnosed With Incomplete Kawasaki Disease

Abstract

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. This autoinflammatory disease is caused by mutations encoding the mevalonate kinase (MVK) gene and is classified in the group of periodic fever syndromes. There is often a considerable delay in the diagnosis among pediatric patients with recurrent episodes of fever. We present a case of an 8-week-old girl with fever of unknown origin and a marked systemic inflammatory response. After excluding infections, a tentative diagnosis of incomplete Kawasaki syndrome was made, based on the finding of dilated coronary arteries on cardiac ultrasound and fever, and she was treated accordingly. However, the episodes of fever recurred, and alternative diagnoses were considered, which eventually led to the finding of increased excretion of mevalonic acid in urine. The diagnosis of MKD was confirmed by mutation analysis of the MVK gene. This case shows that the initial presentation of MKD can be indistinguishable from incomplete Kawasaki syndrome. When fever recurs in Kawasaki syndrome, other (auto-)inflammatory diseases must be ruled out to avoid inappropriate diagnostic procedures, ineffective interventions, and treatment delay.

Periodic fever syndromes: a patient diagnosed with recurrent Kawasaki disease

“…The case presents the recurrence of fever after diagnosed Kawasaki disease with coronary artery involvement. 8 The basic difference with our case is that the first attack of the patient occurred at the age of 4, and the fever repeated 1 year later. In this condition, findings did not comply with the characteristics of hyperimmunoglobulin D syndrome, which are almost always seen in infancy, and the fever repeated every 4-6 weeks.…”

Using the Electronic Medical Record to Correlate Kawasaki Disease Phenotypes With Clinical Outcomes

“…We have previously reported the clinical presentation of systemic onset juvenile arthritis after the KD diagnosis and noted on literature review of prior reported cases that most were diagnosed as incomplete KD specifically lacking scleral injection [4]. Mevalonate kinase deficiency and PFAPA diagnoses causing recurrent fevers have been previously described after initial treatment for incomplete KD [10,11]. Whether children who were subsequently diagnosed with an autoimmune/autoinflammatory illness actually had KD initially or had an alternative diagnosis is unclear.…”

Novel mutation identified in severe early-onset tumor necrosis factor receptor-associated periodic syndrome: a case report

“…Our patient had findings suggesting incomplete KD, urinary tract infection (UTI), and appendicitis, but these alternative diagnoses can be reconciled with the diagnosis of TRAPS. Transient coronary arteritis has been reported to occur in other autoinflammatory diseases [11, 12, 13]. Furthermore, the development of distinct autoinflammatory syndromes in patients with a history of KD has also been described [14] and it has been postulated that such immune dysregulation may also predispose patients to KD.…”