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Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature

Yıl 2012, Cilt: 4 Sayı: 4, 1 - 4, 01.12.2012

Öz

The Chediak Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by partial oculo-cutaneous albinism, frequent pyogenic infections, presence of giant granules in leucocytes and other granule containing cells. Associated findings include silvery hair, photophobia, horizontal and rotatory nystagmus, hepatosplenomegaly and peripheral neuropathy. Mutation of the LYST gene defines the syndrome.
The first case of Chediak Higashi Syndrome was reported by Bequez-cesar in 1943. Since its first description, around 170 cases have been reported in the literature till date and 10 cases have been reported from India.

Kaynakça

  • Skubitz KM: Qualitative disorders of leucocytes. In Lee GR, Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM. (Eds): Wintrobe’s Clinical Hematology. 12th ed., Philadelphia, Williams & Wilkins, 2009; 15481564.
  • Barak Y, Nir E. Chediak-Higashi syndrome. Am J Pediatr Hematol Oncol 1987; 9: 42-55.
  • Nadkarni J, Sarvanan T, Dwivedi R. Chediak - Higashi Syndrome in Accelerated Phase at Initial Presentation. Pediatric Oncall [serial online] 2011 [cited 2011 August 1]; 8. Art # 50. Available from: http://www.pediatriconcall.com/fordoctor/casereports/ched iak.asp
  • Blume RS, Wolff SM. The Chediak-Higashi syndrome: Studies in 4 patients and review of literature. Medicine 1972;51: 247-280.
  • Online Mendelian Inheritance in Man, OMIMR ,Johns Hopkins University, Baltimore,MD. MIM Number : {214500}: {28th March 2012}:. World wide web URL: http://omim.org/
  • Cree JE, Mann TP, Webster AD, Asherson GL. Chediak-Higashi syndrome. Proc R Soc Med. 1975; 68(5):299-300.
  • Rubin CM, Burke BA, McKenna RW, McClain KL, White JG, Nesbit ME Jr, Filipovich AH: The accelerated phase of Chediak-Higashi syndrome. Cancer 1985; 56:524-530.
  • Eapen M, Delaat CA, Baker KS, Cairo MS, Cowan MJ, Kurtzberg J et al. Hematopoietic cell transplantation for Chediak–Higashi syndrome. Bone Marrow Transplant 2007; 39: 411–415.
  • Roy A, Kar R, Basu D,Srivani S, Badhe BA.Clinicohematological Profile of Chediak Higashi Syndrome: Experience from a tertiary care center in South India. Indian J Pathol Microbiol 2011; 54:547-51.
  • Rao S, Kar R, Saxena R. Pseudo Chediak-higashi anomaly in acute myelomonocytic leukemia. Indian J Pathol Microbiol 2009;52(2):255-256.
Yıl 2012, Cilt: 4 Sayı: 4, 1 - 4, 01.12.2012

Öz

Kaynakça

  • Skubitz KM: Qualitative disorders of leucocytes. In Lee GR, Foerster J, Lukens J, Paraskevas F, Greer JP, Rodgers GM. (Eds): Wintrobe’s Clinical Hematology. 12th ed., Philadelphia, Williams & Wilkins, 2009; 15481564.
  • Barak Y, Nir E. Chediak-Higashi syndrome. Am J Pediatr Hematol Oncol 1987; 9: 42-55.
  • Nadkarni J, Sarvanan T, Dwivedi R. Chediak - Higashi Syndrome in Accelerated Phase at Initial Presentation. Pediatric Oncall [serial online] 2011 [cited 2011 August 1]; 8. Art # 50. Available from: http://www.pediatriconcall.com/fordoctor/casereports/ched iak.asp
  • Blume RS, Wolff SM. The Chediak-Higashi syndrome: Studies in 4 patients and review of literature. Medicine 1972;51: 247-280.
  • Online Mendelian Inheritance in Man, OMIMR ,Johns Hopkins University, Baltimore,MD. MIM Number : {214500}: {28th March 2012}:. World wide web URL: http://omim.org/
  • Cree JE, Mann TP, Webster AD, Asherson GL. Chediak-Higashi syndrome. Proc R Soc Med. 1975; 68(5):299-300.
  • Rubin CM, Burke BA, McKenna RW, McClain KL, White JG, Nesbit ME Jr, Filipovich AH: The accelerated phase of Chediak-Higashi syndrome. Cancer 1985; 56:524-530.
  • Eapen M, Delaat CA, Baker KS, Cairo MS, Cowan MJ, Kurtzberg J et al. Hematopoietic cell transplantation for Chediak–Higashi syndrome. Bone Marrow Transplant 2007; 39: 411–415.
  • Roy A, Kar R, Basu D,Srivani S, Badhe BA.Clinicohematological Profile of Chediak Higashi Syndrome: Experience from a tertiary care center in South India. Indian J Pathol Microbiol 2011; 54:547-51.
  • Rao S, Kar R, Saxena R. Pseudo Chediak-higashi anomaly in acute myelomonocytic leukemia. Indian J Pathol Microbiol 2009;52(2):255-256.
Toplam 10 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Bölüm Case Reports
Yazarlar

Hephzibah Rani

Deepak Kanabur Bu kişi benim

Yayımlanma Tarihi 1 Aralık 2012
Yayımlandığı Sayı Yıl 2012 Cilt: 4 Sayı: 4

Kaynak Göster

APA Rani, H., & Kanabur, D. (2012). Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature. Journal of Pediatric Sciences, 4(4), 1-4. https://doi.org/10.17334/jps.66019
AMA Rani H, Kanabur D. Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature. Journal of Pediatric Sciences. Aralık 2012;4(4):1-4. doi:10.17334/jps.66019
Chicago Rani, Hephzibah, ve Deepak Kanabur. “Acclerated Phase of Chediak-Higashi Syndrome-a Case Report With Review of Literature”. Journal of Pediatric Sciences 4, sy. 4 (Aralık 2012): 1-4. https://doi.org/10.17334/jps.66019.
EndNote Rani H, Kanabur D (01 Aralık 2012) Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature. Journal of Pediatric Sciences 4 4 1–4.
IEEE H. Rani ve D. Kanabur, “Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature”, Journal of Pediatric Sciences, c. 4, sy. 4, ss. 1–4, 2012, doi: 10.17334/jps.66019.
ISNAD Rani, Hephzibah - Kanabur, Deepak. “Acclerated Phase of Chediak-Higashi Syndrome-a Case Report With Review of Literature”. Journal of Pediatric Sciences 4/4 (Aralık 2012), 1-4. https://doi.org/10.17334/jps.66019.
JAMA Rani H, Kanabur D. Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature. Journal of Pediatric Sciences. 2012;4:1–4.
MLA Rani, Hephzibah ve Deepak Kanabur. “Acclerated Phase of Chediak-Higashi Syndrome-a Case Report With Review of Literature”. Journal of Pediatric Sciences, c. 4, sy. 4, 2012, ss. 1-4, doi:10.17334/jps.66019.
Vancouver Rani H, Kanabur D. Acclerated phase of Chediak-Higashi syndrome-a case report with review of literature. Journal of Pediatric Sciences. 2012;4(4):1-4.