Chediak-Higashi Syndrome With Epstein-Barr Virus Triggered Hemophagocytic Lymphohistiocytosis: A Case Report

Chediak-Higashi syndrome (CHS) is a rare, autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections, progressive neurologic abnormalities, coagulation defects and a high risk of developing hemophagocytic lymphohistiocytosis characterized by pancytopenia, h...

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Published inCurēus (Palo Alto, CA) Vol. 12; no. 11; p. e11467
Main Authors Gopaal, Nishant, Sharma, Jagdish N, Agrawal, Vijay, Lora, Sawai S, Jadoun, Laxman S
Format Journal Article
LanguageEnglish
Published United States Cureus 13.11.2020
Subjects
Hematology
Oncology
Pediatrics
epstein-barr virus
hair microscopy
hemophagocytic lymphohistiocytosis
silver hair
chediak-higashi syndrome
azurophilic granules
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Summary:Chediak-Higashi syndrome (CHS) is a rare, autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent bacterial infections, progressive neurologic abnormalities, coagulation defects and a high risk of developing hemophagocytic lymphohistiocytosis characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult with poor prognosis. Here, we report a two-and-a-half-year-old male child who was diagnosed with Chediak-Higashi Syndrome based on silvery hair, pathognomonic hair microscopy and giant azurophilic granules in granulocytes. The patient was in advanced stage of HLH induced by an Epstein-Barr virus (EBV) infection and given etoposide, cyclosporine and dexamethasone according to hemophagocytic lymphohistiocytosis (HLH)-2004 protocol but did not survive.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.11467