Chediak-Higashi Syndrome Report a Case

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 thi...

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Autores principales:	J Ghaffari, H Karami, M Ghasemi, Z Daneshmandi, E Mohammadzadeh
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2010
Materias:	chediak-higashi albinism neutrophil granules Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/5d1c50e3a1d34adb8a8e8837832c9ddd
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spelling	oai:doaj.org-article:5d1c50e3a1d34adb8a8e8837832c9ddd2021-11-10T09:00:30ZChediak-Higashi Syndrome Report a Case1561-41072251-7170https://doaj.org/article/5d1c50e3a1d34adb8a8e8837832c9ddd2010-08-01T00:00:00Zhttp://jbums.org/article-1-3636-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND 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.J Ghaffari,H Karami,M GhasemiZ DaneshmandiE MohammadzadehBabol University of Medical Sciencesarticlechediak-higashialbinismneutrophil granulesMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 12, Iss 3, Pp 79-84 (2010)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	chediak-higashi albinism neutrophil granules Medicine R Medicine (General) R5-920
spellingShingle	chediak-higashi albinism neutrophil granules Medicine R Medicine (General) R5-920 J Ghaffari, H Karami, M Ghasemi Z Daneshmandi E Mohammadzadeh Chediak-Higashi Syndrome Report a Case
description	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.
format	article
author	J Ghaffari, H Karami, M Ghasemi Z Daneshmandi E Mohammadzadeh
author_facet	J Ghaffari, H Karami, M Ghasemi Z Daneshmandi E Mohammadzadeh
author_sort	J Ghaffari,
title	Chediak-Higashi Syndrome Report a Case
title_short	Chediak-Higashi Syndrome Report a Case
title_full	Chediak-Higashi Syndrome Report a Case
title_fullStr	Chediak-Higashi Syndrome Report a Case
title_full_unstemmed	Chediak-Higashi Syndrome Report a Case
title_sort	chediak-higashi syndrome report a case
publisher	Babol University of Medical Sciences
publishDate	2010
url	https://doaj.org/article/5d1c50e3a1d34adb8a8e8837832c9ddd
work_keys_str_mv	AT jghaffari chediakhigashisyndromereportacase AT hkarami chediakhigashisyndromereportacase AT mghasemi chediakhigashisyndromereportacase AT zdaneshmandi chediakhigashisyndromereportacase AT emohammadzadeh chediakhigashisyndromereportacase
_version_	1718440286601871360

Chediak-Higashi Syndrome Report a Case

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