Absence of the septum pellucidum may occur as an isolated malformation
. Some of the common paediatric ultrasound and radiology textbooks men
tion this anomaly. However, only 12 case reports have been published s
o far. Absent septum pellucidum is also seen in combination with other
cerebral malformations like septo-optic pituary dysplasia (SOPD, de M
orsier), agenesis of corpus callosum, holoprosencephaly etc. More ofte
n it is seen as a secondary injury due to an increasing internal hydro
cephalus. Occurrence of this aplasia and its significance are often un
derestimated. At a paediatric centre in Germany the anomaly is expecte
d to occur in 1 : 1 000 to 1 : 3 000 cerebral ultrasound examinations.
After a review of the literature four cases are presented. All of the
m were observed by ultrasound during the neonatal period. Using ultras
onography diagnosis of the isolated absence of septum pellucidum can b
e easily performed by the experienced physician, and will usually be o
f eminent relevance for the patient.