DiGeorge syndrome and immune thrombocytopenia purpura

  • Authors

    • Amna Mohsin MRCP working in East and North Hertfordshire NHS trust ,previously working in Al Qassimi Hospital (MOHAP) and wrote article during that .
    • Mahasin Shaheen MD MRCP Al Qassimi Hospital (Ministry of Health and Prevention)
    2019-11-10
    https://doi.org/10.14419/ijm.v7i1.29732
  • Cleft Palate, Congenital Cardiac Anomalies, 22q11.2 Deletion, Digeorge Syndrome, Immune Thrombocytopenic Purpura, Purpuric Rash.

  • Abstract

    Digeorge Syndrome (22q11.2 deletion syndrome) comprises of various congenital anomalies such as cardiac defects, specific facial appearances, defective T cell production, hypocalcemia etc. This syndrome is also associated with various autoimmune diseases. Here we present a case report which shows association of Immune thrombocytopenia purpura with Digeorge Syndrome. A 15 years old boy born with congenital cardiac defects, diagnosed as 22q11.2 deletion syndrome, underwent corrective cardiac surgeries after birth. He developed thrombocytopenia at this age, requiring admission and platelet transfusions. His further work up confirmed Immune thrombocytopenic purpura and its presentation being related to the genetic disorder itself.

     

     

     

  • References

    1. [1] Akar, N. A. a. A., A. D. (2007). "Chromosome 22q11.2 Deletion Presenting with Immune-Mediated Cytopenias, Macrothrombocytopenia and Platelet Dysfunction." Medical Principles and Practice 16(4): 318-320. https://doi.org/10.1159/000102157.

      [2] Bawle, E. V. (2018). "Digeorge Syndrome(Disease mechanism of autoimmune disease)." Medscape.

      [3] DePiero, A. D., Lourie, E. M., Berman, B. W. Robin, N. H., Zinn, A. B. and Hostoffer, R. W. (1997). "Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome." The Journal of Pediatrics 131(3): 484-486. https://doi.org/10.1016/S0022-3476(97)80085-6.

      [4] Goodship, J., Cross, I., Liling, J. and Wren. C. (1998). "A population study of chromosome 22q11 deletions in infancy." Archives of Disease in Childhood 79(4): 348-351. https://doi.org/10.1136/adc.79.4.348.

      [5] Ham Pong, A. J., Cavallo, A., Holman, G. H. and Goldman, A. S. (1985). "DiGeorge syndrome: Long-term survival complicated by Graves disease." The Journal of Pediatrics 106(4): 619-620. https://doi.org/10.1016/S0022-3476(85)80087-1.

      [6] Kawamura, T., Nimura, I. Hanafusa, M., Fujikawa, R., Okubo, M., Egusa, G. and Yamakido, M. (2000). "NOTE DiGeorge Syndrome with Graves' Disease: A Case Report." Endocrine Journal 47(1): 91-95. https://doi.org/10.1507/endocrj.47.91.

      [7] Lévy, A., Michel, G., Lemerrer, M. and Philip, N. (1997). "Idiopathic thrombocytopenic purpura in two mothers of children with DiGeorge sequence: A new component manifestation of deletion 22q11?" American Journal of Medical Genetics 69(4): 356-359. https://doi.org/10.1002/(SICI)1096-8628(19970414)69:4<356::AID-AJMG4>3.0.CO;2-J.

      [8] Liang, H. P. H., Morel-Kopp, M. C., Curtin, J., Wilson, M., Hewson, J., Chen, W. and Ward, C. M. (2007). "Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients." Thromb Haemost 98(12): 1298-1308. https://doi.org/10.1160/TH07-05-0350.

      [9] Markert, M. L., Devlin, B. H. Alexieff, M. J., Li, J., McCarthy, E. A., Gupton, S. E., Chinn, I. K., Hale, L. P., Kepler, T. B. He, M., Sarzotti, M., Skinner, M. A. and Hoehner, J. C. (2007). "Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants." Blood 109(10): 4539-4547. https://doi.org/10.1182/blood-2006-10-048652.

      [10] McDonald-McGinn, D. M., Emanuel, B.S. and Zackai, E.H. . (1999, Updated 2013 Feb 28). "22q11.2 Deletion Syndrome." Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]from https://www.ncbi.nlm.nih.gov/books/NBK1523/.

      [11] Óskarsdóttir, S., Vujic, M. and Fasth, A (2004). "Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden." Archives of Disease in Childhood 89(2): 148-151. https://doi.org/10.1136/adc.2003.026880.

      [12] Sullivan, K. E., McDonald-McGinn, D. M., Driscoll, D. A. Zmijewski, C. M., Ellabban, A. S. Reed, L., Emanuel, B. S., Zackai, E. H., Athreya, B. H. and Keenan, G. (1997). "Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)." Arthritis & Rheumatism 40(3): 430-436. https://doi.org/10.1002/art.1780400307.

      [13] Tison, B. E., Nicholas, S. K., Abramson, S. L., Hanson, I. C., Paul, M. E., Seeborg, F. O., Shearer, W. T., Perez, M. D., Noroski, L. M. and Chinen, J. (2011). "Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome." Journal of Allergy and Clinical Immunology 128(5): 1115-1117.e1113. https://doi.org/10.1016/j.jaci.2011.06.043.

    2. font-family:"Times New Roman",serif;mso-fareast-font-family:Calibri;mso-fareast-theme-font:
    3. minor-latin;color:black;background:white;mso-ansi-language:EN-US;mso-fareast-language:
    4. EN-US;mso-bidi-language:AR-SA'>

  • Downloads

  • How to Cite

    Mohsin MRCP, A., & Shaheen MD MRCP, M. (2019). DiGeorge syndrome and immune thrombocytopenia purpura. International Journal of Medicine, 7(1), 8-11. https://doi.org/10.14419/ijm.v7i1.29732

    Received date: 2019-08-04

    Accepted date: 2019-09-14

    Published date: 2019-11-10