title: 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 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.
authors.affiliation: AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, F-750012 Paris, France.
authors.forename: Cyril
authors.initials: C
authors.lastname: Mignot
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.forename: Lydie
authors.initials: L
authors.lastname: Burglen
authors.forename: Lucie
authors.initials: L
authors.lastname: Hertz-Pannier
authors.forename: Florence
authors.initials: F
authors.lastname: Renaldo
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Gadisseux
authors.forename: Serge
authors.initials: S
authors.lastname: Gallet
authors.forename: Danielle
authors.initials: D
authors.lastname: Pham-Dinh
authors.forename: Odile
authors.initials: O
authors.lastname: Boespflug-Tanguy
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
mesh_terms: D038261:Alexander Disease / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics; D005910:Glioma / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D009897:Optic Chiasm / Q000473:pathology*; D019574:Optic Nerve Neoplasms / Q000473:pathology*; D010211:Papilledema / Q000473:pathology
chemical_list: D005904:Glial Fibrillary Acidic Protein