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

Year 2012, Volume: 4 Issue: 4, 1 - 4, 01.12.2012

Hephzibah Rani Deepak Kanabur

Abstract

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.

Keywords

CHEDIAK HIGASHI SYNDROME, ACCELERATED PHASE, ABNORMAL GRANULES

References

• 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.