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.

journal_name

Brain Dev

journal_title

Brain & development

authors

Rajadhyax M,Neti G,Crow Y,Tyagi A

doi

10.1016/j.braindev.2006.09.007

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

247-50

issue

4

eissn

0387-7604

issn

1872-7131

pii

S0387-7604(06)00210-5

journal_volume

29

pub_type

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