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The first 25 slides, exactly as they appear. The full deck has 77 content slides.
Radiology
Miller-Dieker Syndrome (17p13.3 Deletion Syndrome)
Built from Obstetric Imaging
What’s inside
13 sections · 77 slides
Overview
- What you will learn here
The condition at a glance
What is missing, and what that does to a child
- What Miller-Dieker syndrome is
- Reading the name: 17p13.3 deletion
- The four defining features
- How severe is it?
- 11.7
Lissencephaly: the smooth brain
What the word means, and what it looks like
- How the fetal brain normally folds
- What lissencephaly means
- Three words for a smooth surface
- Brain problems that travel with it
- Three brains compared: folded, over-folded and smooth
- A smooth cerebral surface at autopsy
- Isolated lissencephaly versus Miller-Dieker
How rare is it?
Why nobody can give you a firm number
- How often does it happen?
Why it happens
Migration, microtubules, and three critical genes
- Brain cells have to travel
- The three steps of one cell's journey
- A young neuron climbing towards the cortex
- The scaffolding inside the cell
- From missing DNA to a smooth brain
- PAFAH1B1, the main culprit
- One gene is not the whole story
- YWHAE, the partner gene
- Losing YWHAE on its own is different
- CRK, the growth and face gene
- The three critical genes, side by side
- The genes we know least about
- Why this bit of chromosome 17 breaks easily
- Where the deletion comes from
- Balanced rearrangements in a parent
- Testing the parents is not optional
The clinical picture
What the baby, the child and the family go through
- The newborn and the infant
- Seizures dominate the story
- The eyes
- The face, part one
- The face, part two
- Beyond the brain and the face
- Long-term outlook
What ultrasound can show
The fissure sign, and everything that comes with it
- Why the 20-week scan is hard here
- The earliest hint: a thick nuchal translucency
- The Sylvian fissure sign
- Shallow versus normal Sylvian fissure on ultrasound
- The abnormal fissure, close up
- The normal fissure, close up
- The other grooves to look for
- Findings that come along for the ride
- Why the older numbers looked worse
- What ultrasound cannot show
- Body anomalies that should prompt testing
Fetal MRI
The hourglass brain, and when to look for it
- When to add fetal MRI
- The hourglass brain
- Hourglass brain on fetal MRI
- Getting the timing right
- MRI versus ultrasound
What else could it be?
The differential when a fetal brain looks smooth
- Differential diagnosis, part one
- Differential diagnosis, part two
- Lookalikes without a smooth brain
Making the diagnosis
From a suspicious scan to a confirmed deletion
- The prenatal work-up, step by step
- Amniocentesis under ultrasound guidance
- Sampling the pregnancy
- Which genetic test?
- Human chromosomes labelled by fluorescence in situ hybridization
- If the microarray comes back normal
Treatment
What can and cannot be done
- Before birth
- After birth
What the referring clinician needs to know
Suspect, image, test, counsel
- When to suspect it
- How to act on the suspicion
- Counselling the parents
Key points
The six lines worth carrying away
- Key points
- The one-minute summary
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition