Prenatal diagnosis of agenesis of corpus callosum: what is the neurodevelopmental outcome?

Abstract

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.

Agenesis of the Corpus Callosum: An MR Imaging Analysis of Associated Abnormalities in the Fetus

“…[4][5][6][7][8][9][10] Although the prognostic implications of prenatally detected ACC are not fully understood, evidence suggests that the presence of additional brain abnormalities imparts a worse prognosis. [6][7][8][11][12][13][14][15] We chose to review our experience with cases of ACC and compare them with postnatal cohorts with ACC, to identify associated fetal brain abnormalities that may give insight into the etiology and outcome.…”

Agenesia del cuerpo calloso: un tema poco conocido

“…Para el asesoramiento prenatal, es muy importante identificar los casos de agenesia del cuerpo calloso aislada o asociada a síndromes genéticos, debido a que un 72,2 % de los pacientes con agenesia aislada presentan neurodesarrollo normal , pero solo el 7 % de los casos asociados a síndromes genéticos tienen buen pronóstico con respecto a tener un neurodesarrollo adecuado (32,33).…”

Brain Commissural Anomalies

“…Children with isolated form of agenesis or dysgenesis of the corpus callosum are asymptomatic or presented a mild hypotonia (Francesco et al, 2006). The intelligence (Davila-Gutierrez, 2002) and electroencephalographic (Francesco et al, 2006), usually are normal (Davila-Gutierrez, 2002;Francesco et al, 2006), although these children have a lower capacity for processing somatosensory information (Friefeld et al, 2000).…”

“…The intelligence (Davila-Gutierrez, 2002) and electroencephalographic (Francesco et al, 2006), usually are normal (Davila-Gutierrez, 2002;Francesco et al, 2006), although these children have a lower capacity for processing somatosensory information (Friefeld et al, 2000). Many of the cases have shown a hypertelorism as mild facial dysmorphism which may be a clue to the neuroanatomic anomaly and further justify neuroimaging studies (Davila-Gutierrez, 2002), a more thorough neurological examination reveals defects in transfer of information.…”

“…Additionally, the mental retardation can be exist (Serur et al, 1988) and neurodevelopmental outcome reported to be poor in 15-28% of cases (Moutard et al, 2003;Pilu et al, 1993). While in children with associated brain malformations (Francesco et al, 2006), the neurological features relate to the severity and variety of the accompanying cerebral defects (Davila-Gutierrez, 2002) and include epilepsy (Davila-Gutierrez, 2002;Francesco et al, 2006) mental retardation, hydrocephalus, and morphologic and growth abnormalities that vary from hypotonia to severe spasticity, ataxia, autistic behavior, learning disabilities, and behavioral disorders (Davila-Gutierrez, 2002).…”