Abstract

24years-old nullipara was referred at 23 weeks of gestation because absent cavum septum pellucidum was noticed at a routine ultrasound scan. Ultrasonography showed complete absence of septum pellucidum resulting in box like frontal horns and a mild form of holoprocencephaly. No other abnormalties were detected. An MRI image at 25 weeks has confirmed absent septum pellucidum without fusion of frontal lobes ruling out the diagnosis of lobar holoprocencephaly. Bilateral atrophy of optic nerve with hypoplasia of optic chiasm was seen on coronal 3D image. A normal male karyotyping was found. The fetus was followed up on 4-weekly basis. At 41 weeks gestation, following the onset of spontaneous contractions, an emergency caesarean section was performed for fetal distress. A 3650-g male baby was delivered with Apgar scores of 9, 10 and 10 at 1, 5 and 10 min, respectively. No resuscitation or respiratory support was required. Neonatal dilation fundoscopy examination at 3 months of age has revealed slightly small right optic nerve head and normal left one. Neonatal MRI at 4 months of age has confirmed complete absence of the septum pellucidum, low lying fornices, hypoplasia of cerebral white matter and mild ventriculomegaly. The posterior fossa, anterior visual pathway and optic nerves were normal. A hydrocortisone day curve at 4 months of age revealed low endogenous cortison level, which was replaced. the neonate has normal milestone. He was followed up until age of 14 months when he required a growth hormone replacement and his vision was normal. In conclusion, prenatal diagnosis of septo-optic dysplasia should involve MRI examination in order to outline the diagnosis followed by neonatal MRI and ophthalmological examination to help define the extent of optic-nerve lesion and therefore the prognosis. Neonatal multidisciplinary care is crucial for satisfactory outcome

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