Chediak-Higashi Syndrome: A case report

AUTHORS

Mohammad Ali Molavi 1 , * , Navid Abdi 2 , Abdolmajid Nazemi 1 , Kourosh Mohammadi 1

1 Assistant Professor Department of Pediatrics, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.

2 Medical Students, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.

How to Cite: Molavi M A, Abdi N, Nazemi A, Mohammadi K. Chediak-Higashi Syndrome: A case report, Hormozgan Med J. 2011 ; 15(1):e88391.

ARTICLE INFORMATION

Hormozgan Medical Journal: 15 (1); e88391
Published Online: November 01, 2010
Article Type: Case Report
Received: February 16, 2010
Accepted: November 01, 2010

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Abstract

Introduction: Chediak-Higashi syndrome is a rare autosomal recessive disorder that
characterized by severe immunodeficiency. It is also associated with a lymphoproliferative
disorder termed the accelerated phase with lymphocytic infiltration of the major organ of
the body.
Case Report: The patients was a 1-year old boy with intermittent fever, anorexia,
malaise. On physical examination he showed grey hair colour, tonsilar erythema and
exudate and splenomegaly. Pancytopenia was detected. In bone marrow aspiration and
hair microscopy remarkable intracytoplasmic pigmented granules was seen.
Conclusion: It should be noted when pancytopenia, organomegaly and light hair colour
are present an early bone marrow transplantation should be considered if the diagnosis is
stablished.

Keywords

Chediak-Higashi Syndrome - Accelerated Phase – Pancytopenia - Bone Marrow Transplantation

© 2011, Hormozgan Medical Journal. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.

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