title: Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly.
abstract: Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentation is rare and we report a case that presented with obstructive hydrocephalus and infiltrative lesions in the brain unaccompanied by other features of accelerated phase. Biopsy of these lesions demonstrated sinus histiocytosis. Electron microscopy of hair shaft and genetic studies established the diagnosis of Griscelli disease with RAB 27A mutation.
authors.affiliation: Department of Paediatric Neurology, Genetics and Neurosurgery, Leeds General Infirmary, UK. mamatarajadhyax@yahoo.co.in
authors.forename: Mamata
authors.initials: M
authors.lastname: Rajadhyax
authors.forename: Gayatri
authors.initials: G
authors.lastname: Neti
authors.forename: Yanick
authors.initials: Y
authors.lastname: Crow
authors.forename: Atul
authors.initials: A
authors.lastname: Tyagi
mesh_terms: D002675:Child, Preschool; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D009154:Mutation; D016116:Piebaldism / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D013577:Syndrome; D020691:rab GTP-Binding Proteins / Q000235:genetics; D000075745:rab27 GTP-Binding Proteins
chemical_list: D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins