Callosal agenesis, chorioretinal lacunae, absence of infantile spasms, and normal development: Aicardi syndrome without epilepsy?
Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.
Prats Viñas
Jose Maria
JM
Department of Paediatrics, Paediatric Neurology, Cruces Hospital, Plaza de Cruces sn., Vizcaya, Spain. jprats@hcr.osakidetza.net
Martinez Gonzalez
María Jesús
MJ
Garcia Ribes
Ainhoa
A
Martinez Gonzalez
Sonia
S
Martinez Fernandez
Ricardo
R
D003337:Corpus Callosum / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods; D011247:Pregnancy; D011248:Pregnancy Complications / Q000503:physiopathology; D012164:Retinal Diseases / Q000150:complications* / Q000473:pathology; D013036:Spasms, Infantile / Q000150:complications* / Q000473:pathology*; D013577:Syndrome