Prenatal diagnosis of agenesis of corpus callosum: what is the neurodevelopmental outcome?
BACKGROUND
Corpus callosum is the largest cerebral commissure that connects neocortical areas. Agenesis of corpus callosum (ACC) can be partial or complete, isolated or associated with other malformations. Its prenatal diagnosis creates problems within parental counselling due to its uncertain prognosis. The aim of this study was to correlate the neurodevelopmental outcome with both the clinical picture and the neuroradiological features, in order to improve prenatal parental counselling in a group of nine children with ACC, prenatally diagnosed by ultrasound and then confirmed by postnatal magnetic resonance imaging (MRI).


METHODS
In all patients, cerebral ultrasound scans, electroencephalogram (EEG) examinations, cerebral MRI, cytogenetic analysis, general physical evaluation, neurological examination and neuropsychological assessment (Griffiths Scale, Wechsler Primary and Preschool Scale of Intelligence, Wechsler Intelligence Scale for Children) were carried out.


RESULTS
In six patients the callosal agenesis was isolated, while in 3/9 it was associated with other cerebral malformations. Children with isolated callosal agenesis were asymptomatic or presented a mild hypotonia and the EEG was normal in five of them. All children with other associated brain malformations presented epilepsy, poor psychomotor development and cerebral palsy.


CONCLUSIONS
The prenatal suspicion of ACC needs an accurate diagnostic approach, in order to well determine its isolated or associated nature, linked to different neurodevelopmental outcome.
Francesco
Pisani
P
Developmental Neuropsychiatric Unit, University of Parma, Parma, Italy. francesco.pisani@unipr.it
Maria-Edgarda
Bianchi
B
Giovanni
Piantelli
P
Dandolo
Gramellini
G
Giulio
Bevilacqua
B
D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000254:growth & development*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011379:Prognosis; D016216:Ultrasonography, Prenatal