Accelerated phase of Chediak Higashi Syndrome: An Unusual case of pancytopenia
Keywords:
Chediak Higashi, Pancytopenia, accelerated phase, leukocytes, bone marrow.
Abstract
Chediak Higashi Syndrome (CHS) is a rare and fatal disease with varied clinical features and laboratory findings. Early diagnosis can be made by screening the blood smear and marrow for giant granules in leukocytes. Accelerated phase has poor prognosis. Hematopoietic stem cell transplantation (HSCT) has good role, if done in early (chronic) stage of disease. Hence, a prompt and accurate diagnosis should be given, so that timely intervention can be done. The present case highlights an accelerated phase of CHS in an infant presenting for the first time with recurrent infections and organomegaly.References
1) Roy A, Kar R, Basu D, Srivani S, Badhe BA. Clinico-hematological profile of Chediak Higashi: experience from a tertiary care center in south India. Indian J Pathol Microbiol 2011;54:547–51.
2) Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol 2008; 15:22-9.
3) Beguez-Cesar A. Neutropeneiacronicamaligna familiar con granulaciounesatipicas de los leucocitos. Bol Soc Cubana Pediatr 1943;15:900–22.
4) Chediak MM. New leukocyte anomaly of constitutional and familial character. Rev Hematol 1952;7:362–7.
5) Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint Basile G, Blanche S, et al. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak- Higashi syndrome. Blood 2005; 106:40-2.
6) Nargund AR, Madhumathi DS, Premalatha CS, Rao CR, Appaji L, Lakshmidevi V. Accelerated phase of Chediak-Higashi syndrome mimicking lymphoma: a case report. J Pediatr Hematol Oncol 2010; 32:e223-6.
7) Eapen M, DeLaat CA, Baker KS, Cairo MS, Cowan MJ, Kurtzberg J, et al. Haematopoietic cell transplantation for Chediak-Higashi syndrome. Bone Marrow Transplant 2007; 39:411-5.
8) Diukman R, Tanigawa S, Cown MJ, Globus MS. Prenatal diagnosis of Chediak- Higashi Syndrome. Prenat Diagn. 1992;12(11):877-85.
2) Kaplan J, De Domenico I, Ward DM. Chediak-Higashi syndrome. Curr Opin Hematol 2008; 15:22-9.
3) Beguez-Cesar A. Neutropeneiacronicamaligna familiar con granulaciounesatipicas de los leucocitos. Bol Soc Cubana Pediatr 1943;15:900–22.
4) Chediak MM. New leukocyte anomaly of constitutional and familial character. Rev Hematol 1952;7:362–7.
5) Tardieu M, Lacroix C, Neven B, Bordigoni P, de Saint Basile G, Blanche S, et al. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak- Higashi syndrome. Blood 2005; 106:40-2.
6) Nargund AR, Madhumathi DS, Premalatha CS, Rao CR, Appaji L, Lakshmidevi V. Accelerated phase of Chediak-Higashi syndrome mimicking lymphoma: a case report. J Pediatr Hematol Oncol 2010; 32:e223-6.
7) Eapen M, DeLaat CA, Baker KS, Cairo MS, Cowan MJ, Kurtzberg J, et al. Haematopoietic cell transplantation for Chediak-Higashi syndrome. Bone Marrow Transplant 2007; 39:411-5.
8) Diukman R, Tanigawa S, Cown MJ, Globus MS. Prenatal diagnosis of Chediak- Higashi Syndrome. Prenat Diagn. 1992;12(11):877-85.
Published
2016-08-24
Issue
Section
Case Report
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