Isolated septo-optic dysplasia

Jayprakash Shah

Jayprakash Shah, MD;FICOG;

Rajni Fetal Medicine center, Ahmedabad, India

Case report:

Mrs ABC, Age 20, Primigravida, non-consanguine marriage, married for 2 years

Her first trimester scan at 14 weeks was normal.

At 21 weeks, she was referred for relative oligoamnios.

Following images were recorded:

Figure 1: Transthalamic view – Absent cavum septi pellucidi , central falx line present & intact, bilateral symmetry, no other cerebral abnormality. Midline-connected frontal horn noted.

Pic-1


Figure 2: Transventricle view – Absent cavum septi pellucidi, central falx line present & intact, bilateral symmetry, no other cerebral abnormality. Midline connected frontal horn noted.

Pic-2


Figure 3: Transcerebellar view – showing normal posterior fossa

Pic-3


Figure 4: Biometry of long bones appear normal.

Pic-4


Figure 5: Situs solitus confirmed with breech presentation

Pic-5


Figure 6: Outflow tracts of heart appear normal.

Pic-6

Figure 7: 3-vessel view appears normal

Pic-7


Both kidneys & spine were normal

No other associated malformations

Both eye balls were normal, no hyper / hypotelorism

Movie confirms the cranial findings




Diagnosis of Isolated septo-optic dysplasia was made.

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