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2002-07-03-12 Case of the week #76 © Sierra www.TheFetus.net

 

Answer to case #76

June 3-July 26, 2002

Jose Sierra, MD, .Philippe Jeanty, MD, PhD

Nashville, TN

This 26-weeks fetus was referred for "abnormal images of the brain". We demonstrated the following images. The rest of the anatomy of this fetus was unremarkable as was the anamnestic information. There is also a 1.6 MB videoclip that demonstrates the anomaly better. The striking finding was all the material in the ventricles and we suspected either some choroid plexus tumor (but why bilateral ?) or a blood clot. The videoclip demonstrates the findings better but also that I got blind-sided by the "bleed" and forgot to observe 2 crucial findings: 

1. the absence of the corpus callosum (also visible indirectly from the wide interhemispheric fissure on the images below) and

2. the absence of the cavum septum pellucidum.... duh !!!!!!! incredible how one can easily miss the "absence" of something !

A repeat examination 2 weeks later provided the following images. There was essentially no changes to the intraventricular material but the walls of the ventricles appeared more echogenic and we considered this consistent with a evolving intraventricular bleed. Note (particularly in the 6th image below) the appearance of "lace-like" or strand material in the ventricles.

The last exam performed 4 weeks after the first demonstrated the organization of the clot and the same findings of absence of the corpus callosum and of the cavum septum pellucidum.

So the findings were:

1. intraventricular bleed

2. absense of the corpus callosum and

3. the absense of the cavum septum pellucidum

 

A C-section was performed at 36+1 week’s gestational age due to pregnancy-induced hypertension. A 2800gr.girl baby was born without surgical complications.

After birth, the baby had difficulty to start breathing and several episodes of persistent apnea required CPR. Tachypnea, retractions and nasal flaring with persistent respiratory distress required a 24 hr period intubation for respiratory insufficiency.

The physical exam of the newborn on her 2nd day of life demonstrated a normal phenotype, including the face. An ophthalmological exam revealed bilateral retinal ischemia. Problems sucking and swallowing were the main problem for the first days. The baby was discharged from the NICU in the 9th day.

We lost track of the baby but the parents were very kind in coming to us later to provide us some follow-up. They have actually even created a web site about their daughter: www.faithyancy.com .

The sonographic brain findings during the second and fifth day of life were:

  • Agenesis of the corpus callosum
  • Bilateral ventricular dilatation with multiple “septations” involving the periventricular white matter
  • Normal posterior fossa and 4th ventricle
  • No fluid around the cerebral convexities
  • Reduced sulci and giri for the expected weeks of gestation

The MRI findings at 7 months of age included:

  • Absence of the corpus callosum and cavum septum pellucidum
  • Enlarged 3rd and lateral ventricles above the tentorium (cerebral atrophy)
  • Normal size fourth ventricle
  • Marked degree of supratentorial atrophy
  • Bilateral small subacute subdural hematomas (left-10mm, right-6mm)

 

The baby was finally diagnosed as having Septo Optic Dysplasia. Actually she is 21 months old, is severely developmentally delayed and she does have a variety of challenges and handicaps. She has blindness, nystagmus, seizures, hormonal problems, learning disabilities and mental retardation, and developmental delay especially in her head growth.

 

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