Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly.
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.
Rajadhyax
Mamata
M
Department of Paediatric Neurology, Genetics and Neurosurgery, Leeds General Infirmary, UK. mamatarajadhyax@yahoo.co.in
Neti
Gayatri
G
Crow
Yanick
Y
Tyagi
Atul
A
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
D000075745:rab27 GTP-Binding Proteins; C066694:RAB27A protein, human; D020691:rab GTP-Binding Proteins