RESUMO
Background: Chediak-higashi syndrome is a rare immunodeficiency [autosomal recessive] disorder that affects multiple systems of the body. It usually presents with occulocutaneous albinism, bleeding tendency and recurrent infections
Objectives: To presents different clinical manifestations of Chediak-Higashi syndrome. Study type, settings and duration: An observational study [case report] of three patients of Chediak-Higashi syndrome admitted at Boali hospital, Mazandaran University of medical sciences, Iran in 2012 and 2013
Patients and Methods: We described three cases of Chediak-Higashi syndrome with different clinical presentations
Results: First case was of an eighteen months old girl child admitted with fever and vomiting. Previously she had history of twice hospital admissions due to lower respiratory infection at the age of 2 weeks and 2 months. Physical examination showed hepatosplenomegaly multiple hypopigmentation on face and extremities, bluish iris and silver hair. Second case was of a two month's old baby girl suffering from hemophagocytic lymphohistiocytosis, also known as accelerated phase. On physical examination patient was febrile. She had bleeding tendency and hepatosplenomegaly. Important heamotological finding was pancytopenia. Third case was of a 23 month old boy admitted with recurrent otitis media and pneumonia. He had silver colour hair and skin [hypopigmentaion]
Conclusion: Chediak-higashi syndrome is a rare primary immunodeficiency disorder with different clinical presentations