title: [A hemophagocytic syndrome revealing a Griscelli syndrome type 2].
abstract: Griscelli syndrome type 2 is a rare autosomal recessive disorder, due to a mutation in RAB27A gene. It associates partial albinism, silver hair and immune deficiency. We report the case of a 6 year-old boy who was admitted to the Emergency department with severe sepsis complicated by hemophagocytic syndrome. Many clinical and biological criteria leads to the diagnosis of type 2 Griscelli syndrome: consanguineous family, recurrent infection, absence of psychomotor retardation, oculocutaneous albinism, silver hair, occurrence of hemophagocytic syndrome and especially the pathognomonic appearance on microscopic examination of the hair. The absence of giant organelles inclusion in all granulated cells eliminated Chediak-Higashi syndrome.
authors.affiliation: Service d'hématologie clinique, Hôpital militaire d'instruction Mohammed V, Rabat, Maroc. selimjennane@yahoo.com
authors.forename: Selim
authors.initials: S
authors.lastname: Jennane
authors.forename: Maria
authors.initials: M
authors.lastname: El Kababri
authors.forename: Laila
authors.initials: L
authors.lastname: Hessissen
authors.forename: Amina
authors.initials: A
authors.lastname: Kili
authors.forename: Mohamed Nacer
authors.initials: MN
authors.lastname: Nachef
authors.forename: Nezha
authors.initials: N
authors.lastname: Messaoudi
authors.forename: Kamal
authors.initials: K
authors.lastname: Doghmi
authors.forename: Mohamed
authors.initials: M
authors.lastname: Mikdame
authors.forename: Mohamed
authors.initials: M
authors.lastname: El Khorassani
authors.forename: Mohamed
authors.initials: M
authors.lastname: Khattab
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000175:diagnosis; D002648:Child; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006197:Hair / Q000737:chemistry; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis*; D008262:Macrophage Activation / Q000502:physiology; D008297:Male; D015388:Organelles / Q000648:ultrastructure; D016116:Piebaldism / Q000175:diagnosis*; D010860:Pigments, Biological / Q000032:analysis; D000081207:Primary Immunodeficiency Diseases; D018805:Sepsis / Q000175:diagnosis
chemical_list: D010860:Pigments, Biological
keywords: Griscelli syndrome; hemophagocytic syndrome; immune deficiency; partial albinism