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2011-01-25-15 Answer to the case of the week #294 © Mazzocco

Answer to the case of the week #293

May 12, 2011 - May 26, 2011

Annibale Mazzocco MD*, Renzo Manara MD**, Antonella de Nardi MD***, Albana Cerekja MD PhD****.

*     Prenatal diagnosis and obstetrical US Service. Obstetrics and Gynecology Department. Montebelluna Hospital, Treviso, Italy.
**    Neuroradiology Unit, University Hospital, Padua, Italy.
***   Consultant geneticist. Obstetrics and Gynecology Department. Montebelluna Hospital. Treviso, Italy.
****  Ultrasound Division, ASL Roma B, Rome, Italy.


Case report

This is a case of a 35-year-old patient, G2P1, with non-contributive personal or familial history. Her pregnancy was uneventful, she didn't report any drug use. Blood tests for HIV, TORCH, hepatitis B and C were all negative.

Ultrasound scan at 21 weeks of gestation revealed an absent septum pellucidum both in axial and in coronal views. Communication between the frontal horns was noted. Corpus callosum was of normal appearance and length. No other cranial or extracranial anomalies were detected.

Maternal serum and urinary estriol levels excluded fetal adrenal insufficiency due to pituitary hypoplasia.
A fetal MRI was performed at 22 weeks and showed the isolated absence of the septum pellucidum. The optic nerves were normal which excluded septo-optic dysplasia.

Parents did not agree with suggested amniocentesis and decided to continue the pregnancy. Patient delivered at term via scheduled cesarean section. Neonate was healthy and karyotype was normal, 46 XY. Boy is 14 months old and the moment and is doing great. At the medical check-up at the age of 12 months he had normal height and weight  and normal head circumference. His neural and physical development did not show any abnormalities. He did not suffer from any visual or endocrine abnormalities.

Images 1,2
: Image 1 shows a sagittal view of the fetal head, note normal profile, present nasal bone and corpus callosum. Image 2 shows an axial view, anterior horns are fused, there is no visible cavum septum pellucidum.

Images 3,4
: Axial and coronal view, images show fused anterior horns.

Images 5,6
: Image 5 shows fused anterior horns. Image 6 shows a corpus callosum.

Images 7,8
: Image 7 shows posterior horns of the lateral ventricles. Image 8 shows the middle cerebral artery.

Videos 1,2:
Video 1 shows an axial view of the brain, note absent cavum septum pellucidum and fused anterior horns of the lateral ventricles. Video 2 shows the coronal view, note the fusion of the anterior horns.


Images 9,10: MRI images of the fetal brain. Image 9 shows a normal optic tracts. Image 10 shows a coronal view of the brain, note a missing cavum septum pellucidum.

Images 11,12: Images show an axial view of the fetal brain, lateral ventricles with absent cavum septum pellucidum.

Image 13: Sagittal view showing corpus callosum.

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