Tumor-like enlargement of the optic chiasm in an infant with Alexander disease

Abstract We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities, magnetic resonance imaging demonstrated a tumor-like lesion of the optic chiasm suggestive of a glioma. A transient papilloedema appeared durin...

Full description

Saved in:
Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2009-03, Vol.31 (3), p.244-247
Main Authors: Mignot, Cyril, Desguerre, Isabelle, Burglen, Lydie, Hertz-Pannier, Lucie, Renaldo, Florence, Gadisseux, Jean-François, Gallet, Serge, Pham-Dinh, Danielle, Boespflug-Tanguy, Odile, Rodriguez, Diana
Format: Article
Language:English
Subjects:
Alexander disease
Alexander Disease - genetics
Alexander Disease - pathology
Brain - abnormalities
Brain - pathology
Child, Preschool
DNA Mutational Analysis
Female
GFAP mutation
Glial Fibrillary Acidic Protein - genetics
Glioma - pathology
Humans
Infant
Magnetic Resonance Imaging
Mutation, Missense
Neurology
Optic Chiasm - pathology
Optic Nerve Neoplasms - pathology
Optic pathway glioma
Papilledema - pathology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract We report a patient with infantile Alexander disease (AXD) due to the recurrent p.Arg79Cys GFAP mutation. In addition to typical AXD abnormalities, magnetic resonance imaging demonstrated a tumor-like lesion of the optic chiasm suggestive of a glioma. A transient papilloedema appeared during the follow-up and the lesion partially regressed despite a worsening of white matter involvement. Rare radiological and pathological tumor-like lesions have already been reported in AXD patients. This patient confirms that enlargement of the optic chiasm is a rare feature of AXD, possibly linked to abnormal astrocytic proliferation.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2008.05.005