Table of Contents Author Guidelines Submit a Manuscript
Corrigendum

A corrigendum for this article has been published. To view the corrigendum, please click here.

Case Reports in Pediatrics
Volume 2015, Article ID 807591, 4 pages
http://dx.doi.org/10.1155/2015/807591
Case Report

Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child

1Department of Pediatrics, Nagaoka Chuo General Hospital, 2041 Kawasaki-cho, Nagaoka, Niigata 940-8653, Japan
2Department of Child Neurology, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata, Niigata 950-2085, Japan
3Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishimachi, Yonago, Tottori 683-8504, Japan
4Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University, 86 Nishimachi, Yonago, Tottori 683-8503, Japan
5Sanin Rosai Hospital, 1-8-1 Kaike Shinden, Yonago, Tottori 683-8605, Japan

Received 24 August 2015; Accepted 3 December 2015

Academic Editor: Anibh Martin Das

Copyright © 2015 Ryo Suzuki et al. 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. M. T. Vanier, “Niemann-Pick disease type C,” Orphanet Journal of Rare Diseases, vol. 5, article 16, 2010. View at Publisher · View at Google Scholar · View at Scopus
  2. E. D. Carstea, J. A. Morris, K. G. Coleman et al., “Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis,” Science, vol. 277, no. 5323, pp. 228–231, 1997. View at Publisher · View at Google Scholar · View at Scopus
  3. S. Naureckiene, D. E. Sleat, H. Lacklan et al., “Identification of HE1 as the second gene of Niemann-Pick C disease,” Science, vol. 290, no. 5500, pp. 2298–2301, 2000. View at Publisher · View at Google Scholar · View at Scopus
  4. R. Blank, B. Smits-Engelsman, H. Polatajko, and P. Wilson, “European Academy for Childhood Disability (EACD): recommendations on the definition, diagnosis and intervention of developmental coordination disorder (long version),” Developmental Medicine and Child Neurology, vol. 54, no. 1, pp. 54–93, 2012. View at Publisher · View at Google Scholar · View at Scopus
  5. M. C. Patterson, C. J. Hendriksz, M. Walterfang, F. Sedel, M. T. Vanier, and F. Wijburg, “Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update,” Molecular Genetics and Metabolism, vol. 106, no. 3, pp. 330–344, 2012. View at Publisher · View at Google Scholar · View at Scopus
  6. R. Lingam, J. Golding, M. J. Jongmans, L. P. Hunt, M. Ellis, and A. Emond, “The association between developmental coordination disorder and other developmental traits,” Pediatrics, vol. 126, no. 5, pp. e1109–e1118, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. L. Bond, J. B. Carlin, L. Thomas, K. Rubin, and G. Patton, “Does bullying cause emotional problems? A prospective study of young teenagers,” British Medical Journal, vol. 323, no. 7311, pp. 480–484, 2001. View at Publisher · View at Google Scholar · View at Scopus
  8. J. M. Kwon, “Neurodegenerative disorders of childhood,” in Nelson Textbook of Pediatrics, R. M. Kliegman, B. F. Stanton, J. W. St Geme III, N. F. Schor, and R. E. Behrman, Eds., pp. 2069–2076, Elsevier Saunders, Philadelphia, Pa, USA, 19th edition, 2011. View at Google Scholar
  9. M. Sévin, G. Lesca, N. Baumann et al., “The adult form of Niemann-Pick disease type C,” Brain, vol. 130, no. 1, pp. 120–133, 2007. View at Publisher · View at Google Scholar · View at Scopus
  10. F. A. Wijburg, F. Sedel, M. Pineda et al., “Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type C,” Neurology, vol. 78, no. 20, pp. 1560–1567, 2012. View at Publisher · View at Google Scholar · View at Scopus
  11. J. Tohyama, M. Kato, T. Koeda, and K. Ohno, “Type C Niemann-Pick disease. Detection and quantification of cholesterol-accumulating cells in bone marrow,” Brain and Development, vol. 15, no. 4, pp. 316–317, 1993. View at Publisher · View at Google Scholar · View at Scopus
  12. G. Millat, C. Marçais, M. A. Rafi et al., “Niemann-Pick C1 disease: the I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype,” American Journal of Human Genetics, vol. 65, no. 5, pp. 1321–1329, 1999. View at Publisher · View at Google Scholar · View at Scopus
  13. G. Millat, C. Marçais, C. Tomasetto et al., “Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop,” The American Journal of Human Genetics, vol. 68, no. 6, pp. 1373–1385, 2001. View at Publisher · View at Google Scholar · View at Scopus
  14. T. Yamamoto, E. Nanba, H. Ninomiya et al., “NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C,” Human Genetics, vol. 105, no. 1-2, pp. 10–16, 1999. View at Publisher · View at Google Scholar · View at Scopus
  15. M. C. Patterson, D. Vecchio, H. Prady, L. Abel, and J. E. Wraith, “Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study,” The Lancet Neurology, vol. 6, no. 9, pp. 765–772, 2007. View at Publisher · View at Google Scholar · View at Scopus