Chediak-Higashi syndrome: a case report.
A 5-month-old Chinese male infant was referred to the University Hospital, Kuala Lumpur for persistent fever, generalised rash and abdominal distension. Clinically he was suspected to have haemophagocytic lymphohistiocytosis. Haematological findings including the presence of several abnormal giant granules in neutrophils and single large azurophilic granules in many lymphocytes and monocytes in the peripheral blood established the diagnosis of Chediak-Higashi syndrome. The patient responded to allogeneic bone marrow transplant. This paper discusses the characteristic features, clinical course and management of this rare disorder. We suggest that peripheral blood film examination for the abnormal giant granules in granulocytes is an essential investigation in all young children with frequent recurrent infections or who are suspected to have virus-associated haemophagocytic syndrome or familial haemophagocytic lymphohistiocytosis.
Jayaranee
S
S
Haematology Unit, Department of Pathology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia. jayaranee@um.edu.my
Menaka
N
N
D016026:Bone Marrow Transplantation; D002609:Chediak-Higashi Syndrome / Q000097:blood / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D002681:China / Q000208:ethnology; D003594:Cytoplasmic Granules / Q000473:pathology; D042381:Granulocyte Precursor Cells / Q000473:pathology; D006801:Humans; D007223:Infant; D008296:Malaysia; D008297:Male; D009000:Monocytes / Q000473:pathology; D009504:Neutrophils / Q000473:pathology; D010587:Phagocytosis; D014184:Transplantation, Homologous; D016896:Treatment Outcome