title: Do you know this syndrome? Chediak-Higashi syndrome.
abstract: Chediak-Higashi syndrome is characterized by varying degrees of oculocutaneous albinism, recurrent infections, bleeding disorders and variable neurological involvement. The treatment consists of bone marrow transplantation, which corrects the immunologic and hematologic defects. Untreated patients die as the result of bacterial infections or develop "accelerated phase" lymphoproliferation. We present a case of Chediak-Higashi syndrome and discuss the clinical and laboratorial features that determine its diagnosis.
authors.affiliation: Departamento de Dermatologia, Universidade Federal de São Paulo, Brasil. giovanafantinato@uol.com.br
authors.forename: Giovana Tadéia
authors.initials: GT
authors.lastname: Fantinato
authors.forename: Silmara da Costa Pereira
authors.initials: Sda C
authors.lastname: Cestari
authors.forename: João Paulo Junqueira Magalhães
authors.initials: JP
authors.lastname: Afonso
authors.forename: Letícia Siqueira
authors.initials: LS
authors.lastname: Sousa
authors.forename: Mílvia Maria Simões e Silva
authors.initials: MM
authors.lastname: Enokihara
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male