Abstract
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.
Highlights
Chediak-Higashi syndrome (CHS) is a rare, autosomal-recessive disorder with less than 500 cases published worldwide in the last 20 years [1]. It is caused by a defect in the lysosomal trafficking regulator gene CHS1/LYST which is part of a family of vesicle trafficking regulatory proteins. It is characterized by silvery hair, recurrent bacterial infections, progressive neurologic abnormalities and coagulation defects
Confirmation is made by the identification of a pathogenic variant in the CHS1/LYST gene
Mean age of onset is six years and most do not survive beyond 10 years. It is caused by mutations in the CHS1/LYST gene at 1q42.1-2 locus that control vesicle trafficking regulatory proteins and leads to aberrant fusion of vesicles and failure to transport lysosomes to the appropriate site of action
Summary
Chediak-Higashi syndrome (CHS) is a rare, autosomal-recessive disorder with less than 500 cases published worldwide in the last 20 years [1]. It is caused by a defect in the lysosomal trafficking regulator gene CHS1/LYST which is part of a family of vesicle trafficking regulatory proteins. It is characterized by silvery hair, recurrent bacterial infections, progressive neurologic abnormalities and coagulation defects. The child was treated empirically with ceftriaxone, vancomycin, and fluconazole In view of these findings, a differential diagnosis of CHS, Griscelli syndrome and Hermansky-Pudlak syndrome was made. The patient expired on day 4 of hospitalization due to multi-organ dysfunction
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
