Septo-optic dysplasia (fetal MRI)

Case contributed by Dr Nick Tarasov

Presentation

24 weeks pregnancy. Absent septum pellucidum revealed on US examination, holoprosencephaly and corpus callosum dysgenesis are not excluded.

Patient Data

Age: 20 years
Gender: Female
Ultrasound

Single lateral ventricle, characteristic pattern of the septum pellucidum agenesis

  • no pathological connection between ventricles and hemispheric fissure
  • single lateral ventricle, borders of the cavum septum pellucidum are not identified
  • moderate dilation of the occipital horns
  • different axis of the eyeballs, deviation of the left
  • corpus callosum has a normal anatomy
  • thoracic and abdominal cavities of the fetus without abnormal signals
  • normal position of the placenta
  • no diffusion restriction
MRI

Follow-up MRI at the age of 1 year.

Septum pellucidum agenesis.

Bilateral atrophic changes of optic nerves, more prominent on the right side, where tortuosity is seen also.

Pituitary gland height is slightly decreased but at the same time, it isn't hypoplastic (above from -2SD).

 

Case Discussion

There are signs of the septum pellucidum agenesis, it could be isolated as well as combined with septo-optic dysplasia. It is difficult to answer the question why the globes have a different axis and may be due to either due to eye movement or strabism. 

PlayAdd to Share

Case information

rID: 56337
Published: 30th Oct 2017
Last edited: 18th Feb 2019
Inclusion in quiz mode: Included
Institution: USMU

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.