Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Endocrinology
Volume 2015 (2015), Article ID 314594, 6 pages
http://dx.doi.org/10.1155/2015/314594
Case Report

Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature

1Division of Endocrinology & Metabolism, University of Calgary, 1820 Richmond Road SW, Calgary, AB, Canada T2T 5C7
2Bone & Joint Research Group, Department of Medicine, University of Auckland, Private Bag Box 92019, Auckland 1020, New Zealand
3Departments of Pediatrics, Neurology and Neurosurgery, Division of Pediatric Neurology, Research Institute of the McGill University Health Centre, 1001 boul Décarie, Site Glen Pavilion E / Block E, Montréal, QC, Canada H4A 3J1
4Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, 950 West 28th Avenue, Vancouver, BC, Canada V5Z 4H4

Received 19 January 2015; Accepted 18 May 2015

Academic Editor: Hidetoshi Ikeda

Copyright © 2015 Emma Billington 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. Timmons, M. Tsokos, M. A. Asab et al., “Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia,” Neurology, vol. 67, no. 11, pp. 2066–2069, 2006. View at Publisher · View at Google Scholar · View at Scopus
  2. N. I. Wolf, I. Harting, E. Boltshauser et al., “Leukoencephalopathy with ataxia, hypodontia, and hypomyelination,” Neurology, vol. 64, no. 8, pp. 1461–1464, 2005. View at Publisher · View at Google Scholar · View at Scopus
  3. G. Bernard, I. Thiffault, M. Tetreault et al., “Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31,” Neurogenetics, vol. 11, no. 4, pp. 457–464, 2010. View at Publisher · View at Google Scholar · View at Scopus
  4. M. Sasaki, J.-I. Takanashi, H. Tada, H. Sakuma, W. Furushima, and N. Sato, “Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum,” Brain and Development, vol. 31, no. 8, pp. 582–587, 2009. View at Publisher · View at Google Scholar · View at Scopus
  5. H. Daoud, M. Tétreault, W. Gibson et al., “Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism,” Journal of Medical Genetics, vol. 50, no. 3, pp. 194–197, 2013. View at Publisher · View at Google Scholar · View at Scopus
  6. H. Saitsu, H. Osaka, M. Sasaki et al., “Mutations in POLR3A and POLR3B encoding RNA polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy,” American Journal of Human Genetics, vol. 89, no. 5, pp. 644–651, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. N. I. Wolf, A. Vanderver, R. M. van Spaendonk et al., “Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations,” Neurology, vol. 83, no. 21, pp. 1898–1905, 2014. View at Publisher · View at Google Scholar
  8. G. Bernard, “Pol III-related leukodystrophies,” in GeneReviews, R. A. Pagon, M. P. Adam, T. D. Bird et al., Eds., University of Washington, Seattle, Wash, USA, 2012. View at Google Scholar
  9. A. Potic, B. Brais, K. Choquet, R. Schiffmann, and G. Bernard, “4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations,” Archives of Neurology, vol. 69, no. 7, pp. 920–923, 2012. View at Publisher · View at Google Scholar · View at Scopus
  10. I. Sato, A. Onuma, N. Goto et al., “A case with central and peripheral hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome) plus cataract,” Journal of the Neurological Sciences, vol. 300, no. 1-2, pp. 179–181, 2011. View at Publisher · View at Google Scholar · View at Scopus
  11. S. Orcesi, D. Tonduti, C. Uggetti, D. Larizza, E. Fazzi, and U. Balottin, “New case of 4H syndrome and a review of the literature,” Pediatric Neurology, vol. 42, no. 5, pp. 359–364, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. O. Outteryck, D. Devos, P. Jissendi et al., “4H syndrome: a rare cause of leukodystrophy,” Journal of Neurology, vol. 257, no. 10, pp. 1759–1761, 2010. View at Publisher · View at Google Scholar · View at Scopus
  13. M. Bekiesinska-Figatowska, H. Mierzewska, A. Kuczynska-Zardzewialy, E. Szczepanik, and E. Obersztyn, “Hypomyelination, hypogonadotropic hypogonadism, hypodontia—first Polish patient,” Brain and Development, vol. 32, no. 7, pp. 574–578, 2010. View at Publisher · View at Google Scholar · View at Scopus
  14. E. J. Pavlik, P. D. Depriest, H. H. Gallion et al., “Ovarian volume related to age,” Gynecologic Oncology, vol. 77, no. 3, pp. 410–412, 2000. View at Publisher · View at Google Scholar · View at Scopus
  15. R. Schiffmann and M. S. van der Knaap, “An MRI-based approach to the diagnosis of white matter disorders,” Neurology, vol. 72, no. 8, pp. 750–759, 2009. View at Publisher · View at Google Scholar · View at Scopus
  16. M. E. Steenweg, A. Venderver, S. Blaser et al., “Magnetic resonance imaging pattern recognition in hypomyelinating disorders,” Brain, vol. 133, pp. 2971–2982, 2010. View at Google Scholar
  17. R. La Piana, D. Tonduti, H. G. Dressman et al., “Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies,” Journal of Child Neurology, vol. 29, no. 2, pp. 214–220, 2014. View at Publisher · View at Google Scholar · View at Scopus
  18. M. Tétreault, K. Choquet, S. Orcesi et al., “Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy,” American Journal of Human Genetics, vol. 89, no. 5, pp. 652–655, 2011. View at Publisher · View at Google Scholar · View at Scopus
  19. H. Dumay-Odelot, S. Durrieu-Gaillard, D. Da Silva, R. G. Roeder, and M. Teichmann, “Cell growth- and differentiation-dependent regulation of RNA polymerase III transcription,” Cell Cycle, vol. 9, no. 18, pp. 3687–3699, 2010. View at Publisher · View at Google Scholar · View at Scopus
  20. G. Dieci, G. Fiorino, M. Castelnuovo, M. Teichmann, and A. Pagano, “The expanding RNA polymerase III transcriptome,” Trends in Genetics, vol. 23, no. 12, pp. 614–622, 2007. View at Publisher · View at Google Scholar · View at Scopus
  21. P. Jauhari, J. K. Sahu, P. Singhi, D. Dayal, and N. Khandelwal, “An indian boy with a novel leukodystrophy: 4H syndrome,” Journal of Child Neurology, vol. 29, no. 1, pp. 135–138, 2014. View at Publisher · View at Google Scholar · View at Scopus
  22. Y. Terao, H. Saitsu, M. Segawa et al., “Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III,” Journal of the Neurological Sciences, vol. 320, no. 1-2, pp. 102–105, 2012. View at Publisher · View at Google Scholar · View at Scopus
  23. M. Vázquez-López, Y. Ruiz-Martín, P. De Castro-Castro, C. Garzo-Fernández, F. Martín-Del Valle, and L. Márquez-De La Plata, “Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy,” Revista de Neurologia, vol. 47, no. 4, pp. 204–208, 2008. View at Google Scholar · View at Scopus
  24. K. A. Martin, J. E. Hall, J. M. Adams, and W. F. Crowley Jr., “Comparison of exogenous gonadotropins and pulsatile gonadotropin-releasing hormone for induction of ovulation in hypogonadotropic amenorrhea,” Journal of Clinical Endocrinology and Metabolism, vol. 77, no. 1, pp. 125–129, 1993. View at Google Scholar · View at Scopus