title: Chediak-higashi syndrome presented as accelerated phase: case report and review of the literature.
abstract: Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease, characterized by partial oculocutaneous albinism, recurrent pyogenic infections (skin, mucosa and respiratory system), and neurologic deficit. The hallmark of this syndrome is the presence of abnormal intracytoplasmic giant granules in all granule containing cells including leukocytes in blood and bone marrow. A majority (85 %) of patients with CHS develop an accelerated phase consisting of a lymphoproliferative syndrome with hemophagocytosis and infiltration of most tissues. This phase is characterized by fever, jaundice, hepatosplenomegaly, lymphadenopathy, pancytopenia and neurological abnormalities. In this paper, we report a case of CHS presented as accelerated phase in a 9-month-old girl child.
authors.affiliation: Haematology's Laboratory, University Hospital Farhat Hached, Avenue Ibn Jazzar, 4000 Sousse, Tunisia.
authors.forename: Amina
authors.initials: A
authors.lastname: Bouatay
authors.affiliation: Haematology's Laboratory, University Hospital Farhat Hached, Avenue Ibn Jazzar, 4000 Sousse, Tunisia.
authors.forename: Sondes
authors.initials: S
authors.lastname: Hizem
authors.affiliation: Department of Pediatric, University Hospital Farhat Hached, 4000 Sousse, Tunisia.
authors.forename: Amel
authors.initials: A
authors.lastname: Tej
authors.affiliation: Haematology's Laboratory, University Hospital Farhat Hached, Avenue Ibn Jazzar, 4000 Sousse, Tunisia.
authors.forename: Wided
authors.initials: W
authors.lastname: Moatamri
authors.affiliation: Department of Pediatric, University Hospital Farhat Hached, 4000 Sousse, Tunisia.
authors.forename: Lamia
authors.initials: L
authors.lastname: Boughamoura
authors.affiliation: Haematology's Laboratory, University Hospital Farhat Hached, Avenue Ibn Jazzar, 4000 Sousse, Tunisia.
authors.forename: Mondher
authors.initials: M
authors.lastname: Kortas
keywords: Albinism; Chediak–Higashi syndrome; Lymphohistiocytic infiltration; Pancytopenia; Primary granules