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2005-09-19-10 Answer to Case of the week #154 © Timor www.TheFetus.net
Answer to Case of the week #154

October 20 - November 3, 2005

Ilan Timor, MD, Ana Monteagudo, MD

New York University

This is a 28-year-old woman G2, P0 with a history of one spontaneous first trimester abortion. The family history and past medical history are unremarkable. The quad screen at 17 weeks was normal. She was referred at 36 weeks for a large BPD and hydrocephaly. The TORCH titers were negative.

The following ultrasound findings were noted:
Coronal sections of the brain demonstrate: Asymmetric left and right brain hemispheres;
few and wide gyri and sulci (pachygyria); no corpus callosum, cavum septi and third ventricle. There is an area that is devoid of the cortex and the white matter. Smooth and abrupt rounding of the cortex is seen. The subarachnoid space communicates with the lateral ventricles.

Normal posterior fossa:

Axial view of the brain shows: Few & wide gyri & sulci (pachygyria & lissencephaly); missing hemisphere and cortex; large fluid filled spaces. 

Median plane shows: Indefinable midbrain structures i.e. no visible corpus callosum; missing cavum septi pellucidi and no third ventricle. There is indefinable, bizarre vascular anatomy

3-D multiplanar views of the brain demonstrating the same findings as described above.

3-D power angiogram of the brain vessels shows irregular aberrant blood supply to the brain.

The following are some of the video clips that have been obtained during grey-scale and color Doppler ultrasound scan:

 

 

 

These are some of the video clips of the fetal MRI:

 

 

 

These are the relevant MRI images:

 

This is the reconstructed brain image

This is computer generated brain volume

 

Outcome: At 38 weeks labor started; vertex presentation; transabdominal cephalocentesis was performed under continuous, real time ultrasound guidance. 210 ccs of straw colored fluid was aspirated. After the procedure the BPD was 12 cm.
A cesarean section was performed after prolonged arrest of descent. A baby weighing 4,300 g was delivered. The baby expired 15 minutes later.

This is the macroscopic picture of the brain found at autopsy:

Final diagnosis- Bilateral, open lip schizencephaly, based on the following findings:
• Heterotopia of gray matter (probably of the nodular type)
• Agyria / polimicrogyria / pachygyria / lissencephaly sequence?
• Absence of the  • Corpus callosum
                              • Cavum septi pellucidi
                              • Third ventricle
• Pathological blood vessel configuration

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