CHEDIAK-HIGASHI SYNDROME; REPORT A CASE

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GHAFFARI J.; KARAMI H.; GHASEMI M.; DANESHMANDI Z.; MOHAMMADZADEH IRAJ

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Journal: JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS) Year:2010 | Volume:12 | Issue:3 (56) Page(s): 79-84

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Title

CHEDIAK-HIGASHI SYNDROME; REPORT A CASE

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Keywords

CHEDIAKQ3

HIGASHIQ3

ALBINISMQ3

NEUTROPHIL GRANULESQ3

Abstract

BACKGROUND AND OBJECTIVE: CHEDIAK-higashi syndrome (CHS) is a rare disorder with multiorgan involvement and autosomal recessive inheritance. Clinical signs and symptoms include occulo-cutaneous ALBINISM, bleeding tendency due to platelet dysfunction and recurrent bacterial infections. The aim of this report was to introduce a case with suitable prevention and treatment.CASE: A 21 month-old girl was admitted to Abo-Ali Sina hospital because of fever and vomiting. She had been admitted three times with lower respiratory infection at 14th day, 1st month and 18th month of age and improved in every hospital admission. Clinical examination showed multiple hypo pigmentation in face and extremity. Iris was bluish and her hair was silver like color without strabismus and nystagmus. There was hepatosplenomegaly. CHEDIAK- HIGASHI syndrome was diagnosed on the basis of clinical signs and symptoms, ultrasonography and positive related diagnostic tests for CHS. The patient was treated with prophylactic antibiotic, vitamin C and referred to BM transplant center in Tehran for definite treatment.CONCLUSION: CHEDIAK-higashi syndrome is a rare primary immune deficiency syndrome which could have a favorable outcome with early diagnosis and treatment.

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APA: Copy

GHAFFARI, J., KARAMI, H., GHASEMI, M., DANESHMANDI, Z., & MOHAMMADZADEH, IRAJ. (2010). CHEDIAK-HIGASHI SYNDROME; REPORT A CASE. JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS), 12(3 (56)), 79-84. SID. https://sid.ir/paper/73172/en

Vancouver: Copy

GHAFFARI J., KARAMI H., GHASEMI M., DANESHMANDI Z., MOHAMMADZADEH IRAJ. CHEDIAK-HIGASHI SYNDROME; REPORT A CASE. JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS)[Internet]. 2010;12(3 (56)):79-84. Available from: https://sid.ir/paper/73172/en

IEEE: Copy

J. GHAFFARI, H. KARAMI, M. GHASEMI, Z. DANESHMANDI, and IRAJ MOHAMMADZADEH, “CHEDIAK-HIGASHI SYNDROME; REPORT A CASE,” JOURNAL OF BABOL UNIVERSITY OF MEDICAL SCIENCES (JBUMS), vol. 12, no. 3 (56), pp. 79–84, 2010, [Online]. Available: https://sid.ir/paper/73172/en

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