Tumor-like enlargement of the optic chiasm in an infant with Alexander disease.
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.
Mignot
Cyril
C
AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau, F-750012 Paris, France.
Desguerre
Isabelle
I
Burglen
Lydie
L
Hertz-Pannier
Lucie
L
Renaldo
Florence
F
Gadisseux
Jean-François
JF
Gallet
Serge
S
Pham-Dinh
Danielle
D
Boespflug-Tanguy
Odile
O
Rodriguez
Diana
D
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
D005904:Glial Fibrillary Acidic Protein