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Periodic fever in MVK deficiency : A patient initially diagnosed with incomplete Kawasaki disease

Thors, Valtyr S. ; Vastert, Sebastiaan J. ; Wulffraat, Nico ; Van Royen, Annet ; Frenkel, Joost ; De Sain-Van Der Velden, Monique and De Koning, Tom J. LU (2014) In Pediatrics 133(2).
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,... (More)

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.

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author
; ; ; ; ; and
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Auto inflammatory disease, Fever of unknown origin, Hyperimmunoglobulin D syndrome (HIDS), Kawasaki syndrome, Mevalonate kinase, Mevalonic acid
in
Pediatrics
volume
133
issue
2
publisher
American Academy of Pediatrics
external identifiers
  • scopus:84893328749
  • pmid:24470648
ISSN
0031-4005
DOI
10.1542/peds.2012-1372
language
English
LU publication?
no
id
24419e63-1d3c-46a7-a010-9623bc95166f
date added to LUP
2020-02-26 10:08:38
date last changed
2024-07-24 15:21:57
@article{24419e63-1d3c-46a7-a010-9623bc95166f,
  abstract     = {{<p>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.</p>}},
  author       = {{Thors, Valtyr S. and Vastert, Sebastiaan J. and Wulffraat, Nico and Van Royen, Annet and Frenkel, Joost and De Sain-Van Der Velden, Monique and De Koning, Tom J.}},
  issn         = {{0031-4005}},
  keywords     = {{Auto inflammatory disease; Fever of unknown origin; Hyperimmunoglobulin D syndrome (HIDS); Kawasaki syndrome; Mevalonate kinase; Mevalonic acid}},
  language     = {{eng}},
  month        = {{01}},
  number       = {{2}},
  publisher    = {{American Academy of Pediatrics}},
  series       = {{Pediatrics}},
  title        = {{Periodic fever in MVK deficiency : A patient initially diagnosed with incomplete Kawasaki disease}},
  url          = {{http://dx.doi.org/10.1542/peds.2012-1372}},
  doi          = {{10.1542/peds.2012-1372}},
  volume       = {{133}},
  year         = {{2014}},
}