Clinico-hematological profile of Chediak-Higashi syndrome: Experience from a tertiary care center in south India.

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dc.contributor.authorRoy, Arun
dc.contributor.authorKar, Rakhee
dc.contributor.authorBasu, Debdatta
dc.contributor.authorSrivani, S
dc.contributor.authorBadhe, Bhawana Ashok
dc.date.accessioned2012-10-11T08:23:53Z
dc.date.available2012-10-11T08:23:53Z
dc.date.issued2011-07
dc.description.abstractIntroduction: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by partial ocular and cutaneous albinism, increased susceptibility to pyogenic infections, the presence of large lysosomal-like organelles in most granule-containing cells and a bleeding tendency. The abnormal granules are most readily seen in blood and marrow leukocytes, especially granulocytes; and in melanocytes. Other clinical features include silvery hair, photophobia, horizontal and rotatory nystagmus and hepatosplenomegaly. Materials and Methods: The clinico-hematological profile of a series of 5 cases of CHS encountered at JIPMER Hospital with diagnostic work-up done in the Department of Pathology over the last 6 years is presented. The diagnostic work-up included complete hemogram with peripheral smear, bone marrow examination, skin and liver biopsies. Results: The age of the patients ranged from 5 months to 3 years. All patients had silvery hair and partial albinism and presented with fever and recurrent chest infection. Two patients were stable. Three patients were in accelerated phase; of them, 1 patient with associated hemophagocytic syndrome had a rapidly fulminant course. Peripheral blood smear showed anomalously large granules in the leukocytes. Skin biopsy showed sparse, coarse melanin pigment in the epidermis, and liver biopsy done in 2 patients with accelerated phase showed portal lymphohistiocytic aggregates. Conclusions: The diagnostic hallmark of CHS is the occurrence of giant inclusion bodies (granules) in the peripheral leukocyte and their bone marrow precursors. The case series is being presented because of the rarity of CHS and varied spectrum of clinical and hematological presentation.en_US
dc.identifier.citationRoy Arun, Kar Rakhee, Basu Debdatta, Srivani S, Badhe Bhawana Ashok. Clinico-hematological profile of Chediak-Higashi syndrome: Experience from a tertiary care center in south India. Indian Journal of Pathology & Microbiology. 2011 Jul-Sept 54(3): 547-551.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/142040
dc.language.isoenen_US
dc.source.urihttps://www.ijpmonline.org/article.asp?issn=0377-4929;year=2011;volume=54;issue=3;spage=547;epage=551;aulast=Royen_US
dc.subjectAccelerated phaseen_US
dc.subjectChediak-Higashi syndromeen_US
dc.subjectclinico-hematological profileen_US
dc.subjectlymphohistiocytic aggregateen_US
dc.subject.meshBlood Cells --cytology
dc.subject.meshBone Marrow --pathology
dc.subject.meshChediak-Higashi Syndrome --complications
dc.subject.meshChediak-Higashi Syndrome --pathology
dc.subject.meshChild, Preschool
dc.subject.meshCytoplasmic Granules --ultrastructure
dc.subject.meshFemale
dc.subject.meshFever --etiology
dc.subject.meshHospitals
dc.subject.meshHumans
dc.subject.meshIndia
dc.subject.meshInfant
dc.subject.meshLeukocytes --cytology
dc.subject.meshLiver --pathology
dc.subject.meshMale
dc.subject.meshRespiratory Tract Infections --diagnosis
dc.subject.meshRespiratory Tract Infections --pathology
dc.subject.meshSkin --pathology
dc.subject.meshTertiary Care Centers
dc.titleClinico-hematological profile of Chediak-Higashi syndrome: Experience from a tertiary care center in south India.en_US
dc.typeArticleen_US
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