← All decks
Radiology
Pontocerebellar Disorders
Built from Obstetric Imaging
What’s inside
7 sections · 53 slides
Overview
- Scope of this topic
Anatomy of the pons and cerebellum
The two structures that fail to grow
- Position of the cerebellum
- Inferior surface of the cerebellum
- Vermis and cerebellar hemispheres
- Position of the pons
- Ventral surface of the pons and medulla
- Transverse pontine fibres
- Normal cerebellar hemispheres on coronal magnetic resonance imaging
The disorder
Definition, cause and inheritance
- Definition of pontocerebellar hypoplasia
- Natural course of the disease
- Prevalence and founder populations
- Autosomal recessive inheritance
- Genes implicated in pontocerebellar hypoplasia
- Function of the implicated genes
- Selective vulnerability of the pons and cerebellum
- Genetic and acquired causes
- Non-genetic causes of pontocerebellar damage
Clinical presentation
What the affected newborn and infant look like
- How the diagnosis is usually reached
- Core clinical features
- Further clinical features
- Systemic and laboratory features
- Malignant hyperthermia risk
- Classic signs
- Life expectancy and outcome
Imaging
Ultrasound, fetal magnetic resonance imaging and echocardiography
- Prenatal ultrasound findings
- Transcerebellar view of the fetal posterior fossa
- Sonographic clues in an at-risk pregnancy
- Limits of third-trimester surveillance
- Fetal magnetic resonance imaging
- Magnetic resonance appearances in types 1, 2 and 4
- Reading the magnetic resonance panels
- Flat ventral pons in pontocerebellar hypoplasia type 2
- Dragonfly configuration of the cerebellum
- Dragonfly configuration explained
- Absent transverse pontine fibres on tractography
- Fetal echocardiography
Differential diagnosis
Other causes of the same imaging picture
- Malformations and syndromes to consider
- Other causes of a small pons and cerebellum
Counselling and management
What can be offered before and after birth
- Prenatal treatment options
- Amniocentesis for prenatal genetic testing
- Testing pathway for an at-risk family
- Postnatal multidisciplinary care
- Symptom-directed treatment
- Genetic counselling and family support
- What the referring physician needs to know
- Key points
- References
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- References (continued)
- Obstetric Imaging: Fetal Diagnosis and Care, 2nd Edition