[Gillespie syndrome: 2 familial cases].
We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome.
Boughamoura
L
L
Service de Pédiatrie, Hôpital Farhat-Hached, 4000 Sousse, Tunisie. lamia_boughamoura@yahoo.fr <lamia_boughamoura@yahoo.fr>
Yacoub
M
M
Abroug
M
M
Chabchoub
I
I
Bouguezzi
R
R
Charfeddine
L
L
Amri
F
F
Essoussi
A-S
AS
D001921:Brain / Q000002:abnormalities*; D002648:Child; D003241:Consanguinity; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D035781:Siblings; D013577:Syndrome