Laboratory findings of the patient

CHS is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, recurrent respiratory system and pyogenic infections and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors.[1],[2] Abnormal granules in the granulocyte cells are pathognomonic for the diagnosis of CHS, and these can be easily seen in blood smear and bone marrow aspiration of all patients with CHS. There are two phases of the disease. In the stable period, clinical situation is milder. In accelerated phase, lymphohistiocytic infiltration, fever, peripheral neuropathy, hepatitis, hepatosplenomegaly, lymphadenopathy, pancytopenia, coagulopathy, and hemorrhage are seen. On gingivitis and buccal mucosa, pseudomembranous may occur. Accelerated phase occurs in 85% of cases.[3],[4] HLH, also termed the “accelerated phase,” is a hyperinflammatory syndrome with a high mortality rate. In accelerated phase, hepatosplenomegaly, thrombocytopenia, hypertriglyceridemia, and hypofibrinogenemia are detected.[5] In the previous report from our region, Akbayram et al. reported a case of 14-month-old girl patient with CHS presented with HLH.[1] The particular aspect of our study is that the patient has a very high ferritin level which presented in HLH. In our case, fever, anemia, neutropenia, thrombocytopenia, low fibrinogen level, high transaminase level, hypertriglyceridemia, hyperbilirubinemia, histiocytes demonstrating erythrophagocytosis in bone marrow aspiration were detected.

Conflict of Interest

There are no conflicts of interest.

References

1. Akbayram S, Akgun C, Basaranoglu M, Kaya A, Balta G, Ustyol LN. et al. A case of Chediak Higashi syndrome presented with hemophagocytic lymphohistiocytosis. Int J Hematol Oncol 2011; 21: 196-9
2. Pujani M, Agarwal K, Bansal S, Ahmad I, Puri V, Verma D. et al. Chediak-higashi syndrome – A report of two cases with unusual hyperpigmentation of the face. Turk Patoloji Derg 2011; 27: 246-8
3. Page AR, Berendes H, Warner J, Good RA. The Chediak-Higashi syndrome. Blood 1962; 20: 330-43
4. Rubin CM, Burke BA, McKenna RW, McClain KL, White JG, Nesbit MEJr. et al. The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome?. Cancer 1685; 56: 524-30
5. Barak Y, Nir E. Chediak-higashi syndrome. Am J Pediatr Hematol Oncol 1987; 9: 42-55

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Publication History

Article published online:
23 June 2021

© 2018. Indian Society of Medical and Paediatric Oncology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)

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