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The first 25 slides, exactly as they appear. The full deck has 62 content slides.
Radiology
Neu-Laxova Syndrome
Built from Obstetric Imaging
What’s inside
8 sections · 62 slides
Overview
- What this deck covers
Understanding the disorder
What Neu-Laxova syndrome is, who it affects, and how it ends
- Neu-Laxova syndrome in one look
- Definition of Neu-Laxova syndrome
- The six most commonly described features
- Core features of Neu-Laxova syndrome
- How the syndrome was first described
- Autosomal recessive inheritance
- <100
- Prevalence and epidemiology
- Prognosis
Why it happens
A block in the body's own supply of the amino acid serine
- The cause was unknown until recently
- The serine biosynthesis pathway
- The three enzymes of serine production
- The L-serine molecule
- The three genes reported in Neu-Laxova syndrome
- Serine-deficiency disorders: the shared picture
- Brain changes in serine deficiency
- Neu-Laxova syndrome as the severe end of the spectrum
The pattern of findings
Craniofacial, central nervous system, limb and whole-body abnormalities
- Reading the clinical presentation
- Reported findings grouped by body system
- Clinical Presentation of Neu-Laxova Syndrome
- Craniofacial findings: forehead and eyes
- Craniofacial findings: nose, jaw, mouth and ears
- Central nervous system findings
- Smooth-surfaced brain in lissencephaly
- Limb findings
- Syndactyly on a hand radiograph
- Findings in the rest of the body
- Scaly skin in ichthyosis
Prenatal ultrasound
What raises the suspicion, and how early it can be seen
- Timing of ultrasound diagnosis
- Characteristic ultrasound findings
- Characteristic ultrasound findings of the limbs
- Reading the fetal face on ultrasound
- Fetal face on ultrasound in Neu-Laxova syndrome
- Fetal hand on ultrasound in Neu-Laxova syndrome
- Less commonly reported ultrasound findings
Look-alike conditions
Fourteen disorders that share findings on a prenatal scan
- Approach to the differential diagnosis
- Differential diagnosis from imaging findings
- Differential diagnosis from imaging findings (continued)
- Differential diagnosis from imaging findings (continued)
Counselling and management
Carrier testing, prenatal diagnosis, scan schedules and delivery
- Couples with a previously affected child or fetus
- Options once both parents are known carriers
- Choices for a couple known to be carriers
- Amniocentesis
- Ultrasound schedule when testing is declined
- Why the scan schedule is built this way
- When ultrasound findings suggest the syndrome
- What to send when diagnostic testing is done
- Counselling once the diagnosis is made
- Two counselling situations
- Outcome after delivery
- Term fetus with Neu-Laxova syndrome
Key messages
What the referring physician needs to know
- What the referring physician needs to know
- Testing a fetus with suggestive scan findings
- Managing a pregnancy after diagnosis
- Summary of the topic
- References
- References (continued)
- References (continued)
- References (continued)
- Suggested readings
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition