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Hematol Oncol Stem Cell Ther. 2016 Jun;9(2):71-5. doi: 10.1016/j.hemonc.2015.07.002. Epub 2015 Aug 1.

Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.

Author information

1
Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia. Electronic address: maaloul.ines@hotmail.fr.
2
Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
3
Faculty of Medicine, Anatomical Pathology Laboratory, Habib Bourguiba Hospital, Sfax, Tunisia; Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
4
Faculty of Medicine, Anatomical Pathology Laboratory, Habib Bourguiba Hospital, Sfax, Tunisia.
5
Faculty of Medicine, Laboratory of Hematology, Habib Bourguiba Hospital, Sfax, Tunisia.

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow.

KEYWORDS:

Accelerated phase; Chediak–Higashi syndrome; Hematology; Treatment

PMID:
26254864
DOI:
10.1016/j.hemonc.2015.07.002
[Indexed for MEDLINE]
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