Posterior Fossa Malformations Dr Felice D'Arco
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Lecture on normal and abnormal spectrum of neuro-imaging findings in posterior fossa with focus on pattern recognition and clinico-radiological correlations.
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Posterior Fossa Malformations Dr Felice D'Arco
- 2. Summary Case based Presentation Normal and Abnormal anatomy of the Posterior fossa Cystic Malformations of the Posterior Fossa Other cerebellar malformations Malformations involving cerebellum and brainstem Pattern recognition approach
- 4. Developmental delay 1. both Normal 2. both abnormal 3. left abnormal 4. right abnormal OK BUT WHY??
- 5. Length of pons in sagittal: 1.5 of midbrain and medulla Base of the IV ventricle is a straight line and the fastigium is acute and in midpoint Cerebellar folia are parallel to the calvarium (“onion-like”) Fissures radiating toward cerebellar nuclei
- 7. 6 yo, male, dev. Delay, shunted hydrocephalus 10 yo, male, hydrocephalus Diagnosis? Differences?
- 8. 6 yo, male, dev. Delay, shunted hydrocephalus 10 yo, male, hydrocephalusHypoplastic vermis, rotated. Dilatation IV ventricle, fastigium flattened * Enlarged posterior fossa DANDY WALKER MALFORMATION
- 9. 6 yo, male, dev. Delay, shunted hydrocephalus 10 yo, male, hydrocephalusNormal vermis, may be rotated, fastigium present Dilatation IV ventricle Normal posterior fossa BLAKE’S POUCH CYST Diagnostic Pearls: - Both can have hydrocephalus! - Look at the
- 10. Normal Vermian Anatomy: 9 lobules Diagnostic Pearl: 3D T1 WI is the choice
- 11. Cystic Malformation of the posterior Fossa PF Arachnoid Cyst Mega Cisterna Magna Severino et a. 2019 Poretti et al. 2016
- 12. What about so called “inferior vermis hypoplasia”? Severino & Huisman 2019 Isolated inferior vermian hypoplasia and apparent but not true enlargement of the fourth ventricle (Botsemani et al 2015).
- 14. 3yo, dystonia, dev delay, clonus 23 mo, history of hypoglycemia at birth 4yo female, squint
- 15. 4yo female, squint Unilateral Cerebellar Hypoplasia Non progressive Absent widening of the fissures Disruptive pre-natal Origin (hemorrhage 18-24 wks)
- 16. Global Cerebellar Hypoplasia Global reduction of the Volume of hemispheres and vermis but normal shape Absent widening of the fissures Different etiology ( consider congenital infection!) Global Cerebellar Atrophy
- 17. 23 mo, history of hypoglycemia at birth Isolated (“pure”) Cerebellar atrophy in Pz with CGD Progressive Widening of the fissures Wide differential (neurogenetic conditions)
- 18. Poretti et al. Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update 2015
- 19. “heterogeneous group of prenatal-onset neurodegenerative disorders, mainly but not exclusively affecting the cerebellum and pons.” Pontocerebellar Hypoplasia 11 types of so called PCH Can have non- progressive course Dragonfly vs Global pattern
- 21. Pattern recognition Scola et al. 2019 Progressive cerebellar atrophy (“dragonfly”) PVL like changes Thin corpus callosum Figure of 8 midbrian in axial PCH 9 due to AMPD2 mutation
- 22. Cb Cysts + normal cerebrum & dysplastic IV CMD Cb Cysts + Cobblestone Lis & Z-shaped brainstem LAMA1 Cb Cysts + bilateral PMG GPR 56 Blaser et al 2016 Pattern recognition: Cerebellar cysts
- 23. 2 y, perinatal history of difficulty in swallowing Briguglio M, Pinelli L et al 2014 Pontine Tegmenta l Cap Dysplasia
- 24. 7d old, dysmorphic features, abnormal eye movements Rhomboencephalosynap sis Gomez Lopez hernandez Syndrome: RES + scalp alopecia + trigeminal dysfunction Control
- 25. 9yo old, female, developmental delay with absence seizures Molar tooth sign : Joubert Syndrome
- 26. Joubert Syndrome is just a radiological sign! Romani, Micalizzi, Valente. Lancet 2013 Ciliopathies Multiorgan involvement ocular, retinal hepatic, skeletal (polydactyly) , and renal abnormalitie s
- 27. Putting pieces together: clue for the diagnosis! Poretti et al. Orphanet Journal of Rare Diseases 2012
- 28. 4 y male, delay in both cognitive and motor development, intractable seizures Dysmorphic, asymmetric MCP Abnormal brainstem “unusual orientated/dysmorphic basal ganglia Abnormal corpus callosum Malformation of the cortex Cerebellar hypoplasia/dysplasia Radiological constellation of findings consistent with tubulinopathy Bahi-Buisson N et al. Brain 2014
- 29. 1 y male, deafness, very mild motor delay, pre-natal diagnosis of hydrocephalus Partial agenesis corpus callosum Frontal polymicrogyria Nodular heterotopia Colopcephaly Cerebellar hypoplasia/dysplasia Chudley-McCullough Syndrome – GPSM2 mut Doherty et al. AM J Hum Gen 2012
- 30. Take Home Messages Know what’s normal and you will know what’s not Cerebellar Atrophy vs Hypoplasia (difficult but useful) Connect the dots: pattern recognition Ask a friend … neurologists , geneticists, neuro- metabolic specialists LOOK AT THE BIGGER PICTURES, POSTERIOR FOSSA IS JUST A PART OF THE BRAIN AND BRAIN JUST A PART OF THE BODY!!
- 31. felice.d’arco@gosh.nhs.uk The Villa Poppaea is an ancient Roman seaside villa situated between Naples and Sorrento, in southern Italy.
Editor's Notes
- Thank you organisers
- 1123656 , 911049
- 1123656 , 911049
- 1123656 , 911049
- 1495821 pch2 TSEN, 1064436 PMM2-CGD,
- 1495821 pch2 TSEN, 1064436 PMM2-CGD,
- 1495821 pch2 TSEN, 1064436 PMM2-CGD,
- 1495821 pch2 TSEN, 1064436 PMM2-CGD,
- 1068250 and 739240
- Also speaking of pattern recognition, cerebellar ataxia, intellectual disability, and delayed language development. Five patients had oculomotor apraxia and 3 had severe myopia
- PTCD
- 904770 Gomez-Lopez-Hernandez, rhomboencephalosynapsis
- Joubert OFD syndrome