Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.
We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.
Crow
Yanick J
YJ
Molecular Medicine Unit, University of Leeds, St. James's University Hospital, Leeds, United Kingdom. ycrow@hgmp.mrc.ac.uk
Massey
R F
RF
Innes
J R
JR
Pairaudeau
P W
PW
Rowland Hill
C A
CA
Woods
C G
CG
Ali
M
M
Livingston
J H
JH
Lebon
P
P
Nischall
K
K
McEntagart
M
M
Hindocha
N
N
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000473:pathology*; D001284:Atrophy; D001933:Brain Stem / Q000000981:diagnostic imaging / Q000473:pathology*; D017809:Fatal Outcome; D005260:Female; D005901:Glaucoma / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D019636:Neurodegenerative Diseases / Q000473:pathology*; D014057:Tomography, X-Ray Computed