Aicardi syndrome: an unusual case associated with pineal gland cyst and ventricular septal defect.
Aicardi syndrome is a cerebroretinal disorder consisting of a heterogeneous spectrum of clinical findings that includes the triad of infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae. This report describes a 6-month-old girl who has all of the essential features suggestive of Aicardi syndrome, as well as a pineal gland cyst and ventricular septal defect. Although the characteristic features of Aicardi syndrome have been described, its association with pineal gland cyst and ventricular septal defect has not been reported in the literature.
Mutlu
Fatih Mehmet
FM
Department of Ophthalmology, Gülhane Military Academy and Medical School, Ankara, Turkey. fmmutlu@hotmail.com
Akin
Ridvan
R
Uysal
Yusuf
Y
Unay
Bulent
B
Altinsoy
H Ibrahim
HI
Bayraktar
M Zeki
MZ
D061085:Agenesis of Corpus Callosum; D020863:Central Nervous System Cysts / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D002829:Choroid / Q000002:abnormalities; D015897:Comorbidity; D005124:Eye Abnormalities / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000150:complications / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009421:Nervous System Malformations / Q000150:complications* / Q000473:pathology* / Q000503:physiopathology; D010870:Pineal Gland / Q000473:pathology* / Q000503:physiopathology; D012160:Retina / Q000002:abnormalities; D013036:Spasms, Infantile / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome