Case Report: Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis

Authors

  • Nimra Mazhar Chughtai lab, Lahore
  • Aiman Mahmood Minhas Chughtai Lab
  • Asma Nasir Chughtai lab, Lahore
  • Rabia Insari Chughtai lab, Lahore
  • Ayisha Imran Chughtai lab, Lahore

DOI:

https://doi.org/10.59736/IJP.22.02.895

Keywords:

Chediak higashi syndrome, Hemophagocytic lymphohistiocytosis, LYST gene

Abstract

Chediak higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by albinism, recurrent chest infections and neurological dysfunction. Although a rare disorder but is commonly encountered. Diagnosis of CHS is challenging and most infants remain undiagnosed leading to poor life quality. In this case report, we discuss a 3 years old child that presented to Chughtai institute of Pathology, Lahore. Patient was transfusion dependent and other than fair skin and greyish hair, he also had splenomegaly. His bone marrow biopsy was performed and findings were consistent with CHD with secondary HLH.

References

Akbayram S, Akgun C, Basaranoglu M, et al.. A Case of Chediak-Higashi Syndrome Presented with Hemophagocytic Lymphohistiocytosis. International Journal of Hematology and Oncology 2011; doi: 10.4999/uhod.09055.

Sharma P, Nicoli ER, Serra-Vinardell J, Morimoto M, Toro C, Malicdan MCV, Introne WJ. Chediak-Higashi syndrome: a review of the past, present, and future. Drug Discov Today Dis Models. 2020 Summer;31:31-36. doi: 10.1016/j.ddmod.2019.10.008. Epub 2019 Dec 9. PMID: 33424983; PMCID: PMC7793027.

Maaloul I, Talmoudi J, Chabchoub I, Ayadi L, Kamoun TH, Boudawara T, Kallel CH, Hachicha M. Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review. Hematol Oncol Stem Cell Ther. 2016 Jun;9(2):71-5. doi: 10.1016/j.hemonc.2015.07.002. Epub 2015 Aug 1. PMID: 26254864.

Carneiro IM, Rodrigues A, Pinho L, de Jesus Nunes-Santos C, de Barros Dorna M, Moschione Castro APB, Pastorino AC. Chediak-Higashi syndrome: Lessons from a single-centre case series. Allergol Immunopathol (Madr). 2019 Nov-Dec;47(6):598-603. doi: 10.1016/j.aller.2019.04.010. Epub 2019 Aug 30. PMID: 31477396.

Elfaituri SS, Matoug I. Chédiak-Higashi Syndrome: Case Report and Review of the Literature. Clin Case Rep Int. 2020; 4: 1204.

Song Y, Dong Z, Luo S, Yang J, Lu Y, Gao B, Fan T. Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome. BMC Med Genet. 2020 Jan 6;21(1):4. doi: 10.1186/s12881-019-0922-8. PMID: 31906877; PMCID: PMC6943916.

Agarwalla S, Rao M, Dash K, Chediak-Higashi Syndrome with HLH - A Rare Case Report. Journal Of Medical Science And Clinical Research. 2020; doi https://dx.doi.org/10.18535/jmscr/v8i6.92

Bouatay A, Hizem S, Tej A, Moatamri W, Boughamoura L, Kortas M. Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature. Indian J Hematol Blood Transfus. 2014 Sep;30(Suppl 1):223-6. doi: 10.1007/s12288-014-0336-x. Epub 2014 Jan 31. PMID: 25332584; PMCID: PMC4192156.

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Published

2024-09-15

Issue

Section

Case Reports

How to Cite

1.
Mazhar N, Minhas AM, Nasir A, Insari R, Imran A. Case Report: Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis. Int J Pathol [Internet]. 2024 Sep. 15 [cited 2024 Oct. 6];22(2):96-100. Available from: https://jpathology.com/index.php/OJS/article/view/895