title: Griscelli syndrome type 2: a rare and lethal disorder.
abstract: Griscelli syndrome is a rare autosomal recessive disorder. It is characterized by pigment dilution and variable immune deficiency leading to increased susceptibility to certain infections and a tendency to develop a life-threatening hemophagocytic syndrome known as the accelerated phase. Griscelli syndrome is now classified into 3 types based on the genetic and molecular features. Primary neurological presentation without the accelerated phase is rare in type 2. In this article, the authors report a boy who was presented with seizures and diffuse white matter involvement unaccompanied by the other features of the accelerated phase. Mutation analysis in family members revealed the presence of a missense mutation in Rab27a gene. In addition to the rare presentation, this is the first case of Griscelli syndrome to be reported from Jordan.
authors.affiliation: Department of Pediatrics, Division of child Neurology, Jordan University Hospital, Amman, Jordan. amasri@ju.edu.jo
authors.forename: Amira
authors.initials: A
authors.lastname: Masri
authors.forename: Faris G
authors.initials: FG
authors.lastname: Bakri
authors.forename: Maissa
authors.initials: M
authors.lastname: Al-Hussaini
authors.forename: Azmy
authors.initials: A
authors.lastname: Al-Hadidy
authors.forename: Rania
authors.initials: R
authors.lastname: Hirzallah
authors.forename: Geneviève
authors.initials: G
authors.lastname: de Saint Basile
authors.forename: Hanan
authors.initials: H
authors.lastname: Hamamy
mesh_terms: D000417:Albinism / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002648:Child; D002869:Chromosome Aberrations; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D018450:Disease Progression; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics; D017809:Fatal Outcome; D005808:Genes, Recessive / Q000235:genetics*; D006197:Hair / Q000473:pathology; D006801:Humans; D007597:Jordan; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008543:Melanins / Q000378:metabolism; D020125:Mutation, Missense / Q000235:genetics*; D012640:Seizures / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000235:genetics*; D000075745:rab27 GTP-Binding Proteins
chemical_list: D008543:Melanins; D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins