Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Pediatrics
Volume 2017, Article ID 9523427, 6 pages
https://doi.org/10.1155/2017/9523427
Case Report

First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII

1Neuropathology Unit, Department of Anatomic Pathology and Reference Center for Neuromuscular Pathology, Brugmann University Hospital-Children’s Hospital (CHU Brugmann-HUDERF), Université Libre de Bruxelles (ULB), Brussels, Belgium
2Unit of Fetal Pathology, CHU Brugmann-HUDERF, ULB, Brussels, Belgium
3Department of Anatomic Pathology, Erasme Academic Hospital, ULB, Brussels, Belgium
4Center for Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles (ULB), Brussels, Belgium

Correspondence should be addressed to Hazim Kadhim; eb.nnamgurb-uhc@mihdak.mizah

Received 3 March 2017; Revised 16 May 2017; Accepted 12 June 2017; Published 10 July 2017

Academic Editor: Junji Takaya

Copyright © 2017 Hazim Kadhim 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. E. G. Barness, Ed., Potter’s Pathology of the Fetus, Infant and Child, Mosby/Elsevier, 2nd edition, 2007.
  2. K. Delbecque, S. Gaillez, and J. P. Schaaps, “Histopathological diagnosis of a type VII mucopolysaccharidosis after pregnancy termination,” Fetal and Pediatric Pathology, vol. 28, no. 1, pp. 1–8, 2009. View at Publisher · View at Google Scholar · View at Scopus
  3. A. M. Montaño, N. Lock-Hock, R. D. Steiner et al., “Clinical course of sly syndrome (mucopolysaccharidosis type VII),” Journal of Medical Genetics, vol. 53, no. 6, pp. 403–418, 2016. View at Publisher · View at Google Scholar
  4. O. Staretz-Chacham, T. C. Lang, M. E. Lamarca, D. Krasnewich, and E. Sidransky, “Lysosomal storage disorders in the newborn,” Pediatrics, vol. 123, no. 4, pp. 1191–1207, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. J. A. Golden and B. N. Harding, “Pathology and Genetics. Developmental Neuropathology,” ISN Neuropath Press, 386 pages, 2004. View at Google Scholar
  6. N. Venkat-Raman, N. J. Sebire, and K. W. Murphy, “Recurrent fetal hydrops due to mucopolysaccharidoses type VII,” Fetal Diagnosis and Therapy, vol. 21, no. 3, pp. 250–254, 2006. View at Publisher · View at Google Scholar · View at Scopus
  7. A. Geipel, C. Berg, U. Germer, M. Krapp, M. Kohl, and U. Gembruch, “Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune fetal hydrops: Study of a family and technical approach to prenatal diagnosis in early and late pregnancy,” Prenatal Diagnosis, vol. 22, no. 6, pp. 493–495, 2002. View at Publisher · View at Google Scholar · View at Scopus
  8. R. L. Friede, Ed., Developmental Neuropathology, Springer-Verlag, 2nd edition, 1989. View at Publisher · View at Google Scholar
  9. K. Segers, H. Kadhim, C. Colson, R. Duttmann, and G. Glibert, “Adult polyglucosan body disease masquerading as "ALS with dementia of the Alzheimer type": An exceptional phenotype in a rare pathology,” Alzheimer Disease and Associated Disorders, vol. 26, no. 1, pp. 96–99, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. R. Vervoort, M. Rafiqul Islam, W. S. Sly et al., “Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII,” American Journal of Human Genetics, vol. 58, no. 3, pp. 457–471, 1996. View at Google Scholar · View at Scopus
  11. M. Fanin, A. Torella, M. Savarese, V. Nigro, and C. Angelini, Neurology Genetics, vol. 1, no. 3, p. e21, 2015. View at Publisher · View at Google Scholar
  12. A. J. Molyneux, E. Blair, N. Coleman, and P. Daish, “Mucopolysaccharidosis type VII associated with hydrops fetalis: Histopathological and ultrastructural features with genetic implications,” Journal of Clinical Pathology, vol. 50, no. 3, pp. 252–254, 1997. View at Publisher · View at Google Scholar · View at Scopus
  13. T. D. McDonald, P. L. Faust, C. Bruno, S. DiMauro, and J. E. Goldman, “Polyglucosan body disease simulating amyotrophic lateral sclerosis,” Neurology, vol. 43, no. 4, pp. 785–790, 1993. View at Publisher · View at Google Scholar · View at Scopus
  14. C. Bruno, S. Servidei, S. Shanske et al., “Glycogen branching enzyme deficiency in adult polyglucosan body disease,” Annals of Neurology, vol. 33, no. 1, pp. 88–93, 1993. View at Publisher · View at Google Scholar · View at Scopus
  15. D. L. Stone and E. Sidransky, “Hydrops fetalis: lysosomal storage disorders in extremis.,” Advances in pediatrics, vol. 46, pp. 409–440, 1999. View at Google Scholar · View at Scopus
  16. M. Kumar, I. M. Nasrallah, S. Kim et al., “High-resolution magnetic resonance microscopy and diffusion tensor imaging to assess brain structural abnormalities in the murine mucopolysaccharidosis vii model,” Journal of Neuropathology and Experimental Neurology, vol. 73, no. 1, pp. 39–49, 2014. View at Publisher · View at Google Scholar · View at Scopus