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Case Reports in Pediatrics
Volume 2014, Article ID 936890, 4 pages
http://dx.doi.org/10.1155/2014/936890
Case Report

Neonatal Hepatitis as First Manifestation of Hyperimmunoglobulinemia D Syndrome

Department of Paediatrics, Hvidovre University Hospital, Kettegaard Alle 30, 2650 Hvidovre, Denmark

Received 20 December 2013; Accepted 16 January 2014; Published 3 March 2014

Academic Editors: J. Takaya and S. Tay

Copyright © 2014 Marie-Louise von Linstow and Vibeke Rosenfeldt. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. E. Lainka, U. Neudorf, P. Lohse et al., “Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children,” Rheumatology International, vol. 32, no. 10, pp. 3253–3260, 2012. View at Publisher · View at Google Scholar · View at Scopus
  2. J. C. H. van der Hilst, E. J. Bodar, K. S. Barron et al., “Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome,” Medicine, vol. 87, no. 6, pp. 301–310, 2008. View at Publisher · View at Google Scholar · View at Scopus
  3. J. P. H. Drenth, L. Cuisset, G. Grateau et al., “Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome,” Nature Genetics, vol. 22, no. 2, pp. 178–181, 1999. View at Publisher · View at Google Scholar · View at Scopus
  4. S. M. Houten, W. Kuis, M. Duran et al., “Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome,” Nature Genetics, vol. 22, no. 2, pp. 175–177, 1999. View at Publisher · View at Google Scholar · View at Scopus
  5. D. Haas and G. F. Hoffmann, “Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome,” Orphanet Journal of Rare Diseases, vol. 1, no. 1, article 13, 2006. View at Publisher · View at Google Scholar · View at Scopus
  6. M. Korppi, M. E. van Gijn, and K. Antila, “Hyperimmunoglobulinemia D and periodic fever syndrome in children. Review on therapy with biological drugs and case report,” Acta Paediatrica, vol. 100, no. 1, pp. 21–25, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. M. Tahara, H. Sakai, R. Nishikomori et al., “Patient with neonatal-onset chronic hepatitis presenting with mevalonate kinase deficiency with a novel MVK gene mutation,” Modern Rheumatology, vol. 21, no. 6, pp. 641–645, 2011. View at Publisher · View at Google Scholar · View at Scopus
  8. M. Leyva-Vega, P. F. Weiss, J. Ganesh, L. Conlin, N. B. Spinner, and R. P. Matthews, “Significant liver disease in a patient with Y116H mutation in the MVK gene,” American Journal of Medical Genetics A, vol. 155, no. 6, pp. 1461–1464, 2011. View at Publisher · View at Google Scholar · View at Scopus
  9. D. D. Hinson, Z. R. Rogers, G. F. Hoffmann et al., “Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency,” American Journal of Medical Genetics, vol. 78, no. 5, pp. 408–412, 1998. View at Google Scholar
  10. J. B. C. de Klerk, M. Duran, L. Dorland, H. A. A. Brouwers, L. Bruinvis, and D. Ketting, “A patient with mevalonic aciduria presenting with hepatosplenomegaly, congenital anaemia, thrombocytopenia and leukocytosis,” Journal of Inherited Metabolic Disease, vol. 11, supplement 2, pp. 233–236, 1988. View at Google Scholar · View at Scopus
  11. C. Prasad, M. I. Salvadori, and C. A. Rupar, “Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria,” Molecular Genetics and Metabolism, vol. 107, no. 4, pp. 756–759, 2012. View at Publisher · View at Google Scholar