Advanced search
Publication Cover
Platelets Volume 29, 2018 - Issue 7
Submit an article Journal homepage
356
Views
2
CrossRef citations to date
0
Altmetric
CASE REPORT

Hypoparathyroidism concomitant with macrothrombocytopenia in an elderly woman with 22q11.2 deletion syndrome

Hsiu-Chien YangDivision of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan;Division of Nephrology, Department of Internal Medicine, Zuoying Branch of Kaohsiung Armed Forces General Hospital, Kaohsiung, Taiwan
,
Shih-Hua LinDivision of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan
,
Yi-Ying WuDivision of Hematology/Oncology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan
&
Chih-Chien SungDivision of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan;Graduate Institute of Life Science, National Defense Medical Center, Taipei, TaiwanCorrespondence[email protected]
Pages 733-736 | Received 05 Mar 2018, Accepted 16 May 2018, Published online: 31 May 2018

References

  • Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443–1452. doi:10.1016/S0140-6736(07)61601-8.
  • Lindsay EA. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet. 2001;2:858–868. doi:10.1038/35098574.
  • Hacihamdioglu B, Hacihamdioglu D, Delil K. 22q11 deletion syndrome: current perspective. Appl Clin Genet. 2015;8:123–132. doi:10.2147/TACG.S82105.
  • Ohi K, Hashimoto R, Yamamori H, Yasuda Y, Fujimoto M, Nakatani N, Kamino K, Takeda M. How to diagnose the 22q11.2 deletion syndrome in patients with schizophrenia: a case report. Ann Gen Psychiatry. 2013;12:29. doi:10.1186/1744-859X-12-29.
  • Akar NA, Adekile AD. Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction. Med Princ Pract. 2007;16:318–320. doi:10.1159/000102157.
  • Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am J Med Genet A. 2007;143A:2924–2930. doi:10.1002/ajmg.a.32101.
  • Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 2001;410:97–101. doi:10.1038/35065105.
  • Bertola G, Giambona S, Bianchi R, Girola A, Berra SA. [Di George syndrome: not always a pediatric diagnosis]. Recenti Prog Med. 2013;104:69.
  • Passeri E, Frigerio M, Valaperta R, Costa E, Ambrosi B, Corbetta S. Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome. J Endocrinol Invest. 2010;33:852–853. doi:10.1007/BF03350353.
  • Nakada Y, Terui K, Kageyama K, Tsushima Y, Murakami H, Soma Y, Nigawara T, Sakihara S. An adult case of 22q11.2 deletion syndrome diagnosed in a 36-year-old woman with hypocalcemia caused by hypoparathyroidism and Hashimoto’s thyroiditis. Intern Med. 2013;52:1365–1368. doi:10.2169/internalmedicine.52.9543.
  • Acharya S, Shukla S, Singh D, Deshpande R, Mahajan SN. Congenital hypoparathyroidism presenting as recurrent seizures in an adult. J Nat Sci Biol Med. 2012;3:90–93. doi:10.4103/0976-9668.95981.
  • Lee SK, Lee MJ, Lee HJ, Kim BK, Sohn YB, Chung YS. A case of CATCH22 syndrome diagnosed in postmenopausal woman. J Bone Metab. 2013;20:57–60. doi:10.11005/jbm.2013.20.1.57.
  • Rosa RF, Rosa RC, Dos Santos PP, Zen PR, Paskulin GA. Hematological abnormalities and 22q11.2 deletion syndrome. Rev Bras Hematol Hemoter. 2011;33:151–154. doi:10.5581/1516-8484.20110037.
  • Kato T, Kosaka K, Kimura M, Imamura S, Yamada O, Iwai K, Ando M, Joh-O K, Kuroe K, Ohtake A. Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta. Genet Med. 2003;5:113–119. doi:10.1097/01.GIM.0000056828.03164.30.
  • Latger-Cannard V, Bensoussan D, Gregoire MJ, Marcon F, Cloez JL, Leheup B, Jonveaux P, Lecompte T, Bordigoni P. Frequency of thrombocytopenia and large platelets correlates neither with conotruncal cardiac anomalies nor immunological features in the chromosome 22q11.2 deletion syndrome. Eur J Pediatr. 2004;163:327–328. doi:10.1007/s00431-004-1426-9.
  • Kunishima S, Imai T, Kobayashi R, Kato M, Ogawa S, Saito H. Bernard-Soulier syndrome caused by a hemizygous GPIbbeta mutation and 22q11.2 deletion. Pediatr Int. 2013;55:434–437. doi:10.1111/ped.12105.
  • Hernandez-Nieto L, Yamazaki-Nakashimada MA, Lieberman-Hernandez E, Espinosa-Padilla SE. Autoimmune thrombocytopenic purpura in partial DiGeorge syndrome: case presentation. J Pediatr Hematol Oncol. 2011;33:465–466. doi:10.1097/MPH.0b013e31821b0915.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.