title: Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review.
abstract: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis, and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 2-year-old boy who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis, and identification of pathognomonic giant azurophilic granules in peripheral blood and bone marrow.
authors.affiliation: Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia. Electronic address: maaloul.ines@hotmail.fr.
authors.forename: I
authors.initials: I
authors.lastname: Maaloul
authors.affiliation: Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
authors.forename: J
authors.initials: J
authors.lastname: Talmoudi
authors.affiliation: Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
authors.forename: I
authors.initials: I
authors.lastname: Chabchoub
authors.affiliation: Faculty of Medicine, Anatomical Pathology Laboratory, Habib Bourguiba Hospital, Sfax, Tunisia; Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
authors.forename: L
authors.initials: L
authors.lastname: Ayadi
authors.affiliation: Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
authors.forename: T H
authors.initials: TH
authors.lastname: Kamoun
authors.affiliation: Faculty of Medicine, Anatomical Pathology Laboratory, Habib Bourguiba Hospital, Sfax, Tunisia.
authors.forename: T
authors.initials: T
authors.lastname: Boudawara
authors.affiliation: Faculty of Medicine, Laboratory of Hematology, Habib Bourguiba Hospital, Sfax, Tunisia.
authors.forename: C H
authors.initials: CH
authors.lastname: Kallel
authors.affiliation: Faculty of Medicine, Pediatric Department, Hédi Chaker Hospital, Sfax, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D001853:Bone Marrow / Q000473:pathology; D002609:Chediak-Higashi Syndrome / Q000150:complications / Q000473:pathology*; D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D017496:Hypopigmentation / Q000150:complications; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D008297:Male; D013396:Suction; D014054:Tomography
keywords: Accelerated phase; Chediak–Higashi syndrome; Hematology; Treatment