Pediatric outcome of children with the prenatal diagnosis of isolated septal agenesis

Abstract

The discovery of an isolated SA reveals the difficulties of prenatal diagnosis to correlate the neurological and functional prognosis to morphological findings. The prognosis seemed to be good. It appears necessary to improve the diagnostic performance of fetal brain imaging and to follow-up these children prospectively to assess their long-term cognitive-behavioral outcomes.

From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities

“…Indeed, failure to identify the CSP is a key feature in the diagnosis of the large spectrum of both holoprosencephalies and commissural anomalies, such as complete corpus callosal agenesis, septo-optic dysplasia (malformative origin), schizencephaly (ischemic insult) and obstructive ventriculomegaly (barotraumatic insult) 2 -6 . As absence of the CSP is one of the main findings of midline anomalies, it should be considered as a marker of abnormal central nervous system organization and not as a malformation per se, since isolated absence of the CSP can be observed in normal individuals 4,7 . In our experience, some patients referred to our institution with isolated ventriculomegaly in fact had undiagnosed corpus callosal agenesis, despite the presence of the CSP being mentioned in their previous ultrasound reports ( Figure 1).…”

AgénésiePartielle Du Septum Pellucidum Isolée : Un Diagnostic Anténatal

“…Pour ce qui est du pronostic postnatal d'ASP, il dépend du fait d'être isolée ou associée aux autres malformations cérébrales ; ainsi donc il est souvent bon lorsque l'ASP est isoléemais par contre mauvais lorsqu'associée aux malformations cérébrales, notamment à une SOD, elle peut s'accompagner des troubles visuels pouvant aller jusqu'à une cécité, un panhypopituitarisme et retard mental [5].…”

Isolated Absence of Septum Pellucidum: Prenatal Diagnosis and Outcome

“…In the case of isolated ASP, detailed US examination should exclude midline malformations, i.e. HPE, corpus callosum agenesis, rhombencephalosynapsis, obstructive hydrocephaly or ischemic destructive lesions [1,2,3,4,5]. Different authors emphasize the extreme rarity of asymptomatic ASP [1,2,3,4,5].…”

“…Fetal MRI adds useful information in many patients [2,4]. For example, in agenesis of the corpus callosum, prenatal MRI finds other abnormalities that were missed on sonography in more than half of cases [6].…”

“…Isolated ASP may be present in normal individuals, although it can be associated with severe neurological anomalies such as SOD or be a part of the HPE syndrome [1,2]. SOD is a midline anomaly characterized by ASP, optic nerve hypoplasia and pituitary dysfunction [1].…”