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Agenesis of the Corpus Callosum

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Presentation from the IVth Congress of Imaging Physicians of the Republic of Moldova with International Participation, May 31 to June 2, 2018

Author: Vyacheslav Moshin Jr
Mentors: Feodosy Bejan, Rhodica Chertan-Bejan

Published in: Health & Medicine
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Agenesis of the Corpus Callosum

  1. 1. Disgenezia Corpului Calos Corpus Callosum Agenesis Imaging Diagnosis Author: Mentors: Dr Rhodica Chertan-Bejan Dr Vyacheslav Moshin Jr Dr Feodosy Bejan
  2. 2. Disgenezia Corpului Calos Corpus Callosum – Definition Cerebral structure that belongs to the , consists of numerous cortical commissural fibers that connects structurally and functionally both hemispheres. It’s the biggest commissure in the brain.
  3. 3. Disgenezia Corpului Calos Anatomy of the There are 3 types of fibers: A. Associative – connects regions from the same hemisphere; B. Commisural – interconnection between both hemispheres; C. Projection – fibers that leave the and connects inferior regions of the brain, including spinal cord.
  4. 4. Disgenezia Corpului Calos Commissures of the
  5. 5. Disgenezia Corpului Calos Corpus Callosum – Embriology
  6. 6. Disgenezia Corpului Calos Structure - schematic
  7. 7. Structure - USG
  8. 8. Structure - MRI
  9. 9. Structure - MRI
  10. 10. Disgenezia Corpului Calos Structure - MRI
  11. 11. Disgenezia Corpului Calos CC – related structures
  12. 12. Disgenezia Corpului Calos CC – related structures
  13. 13. Disgenezia Corpului Calos CC – related structures
  14. 14. Disgenezia Corpului Calos CC – related structures
  15. 15. Disgenezia Corpului Calos CC – related structures
  16. 16. Disgenezia Corpului Calos CC – related structures
  17. 17. Disgenezia Corpului Calos Vascular supply – schematic
  18. 18. Disgenezia Corpului Calos Vascular supply – USG Power Doppler Color Doppler
  19. 19. Disgenezia Corpului Calos Corpus Callosum – Functions Connects the right and left cerebral hemispheres There are about ~200 mln fibers (2-3% of the cortical fibers) responsible for transferring of the information: Motor Sensory Cognitive
  20. 20. Disgenezia Corpului Calos Corpus Callosum Agenesis – Definition Congenital anomaly of the brain characterized by a total or partial absence of the Corpus Callosum. It can be isolated or associated with other anomalies.
  21. 21. Disgenezia Corpului Calos Corpus Callosum Agenesis – Incidence It’s the most frequent brain anomaly. According to The Fetal Medicine Foundation the incidence is 1:300 births. In comparison, the incidence of Down syndrome is – 1:600
  22. 22. Disgenezia Corpului Calos Corpus Callosum Agenesis – Etiology The exact cause is unknown. However, it’s considered that genetic factors are mostly involved. The way it can be inherited: - Autosomal dominant - Autosomal recessive - X-linked
  23. 23. Disgenezia Corpului Calos Corpus Callosum Agenesis – Etiology Agenesis of the Corpus Callosum can be associated with other 250 genetic syndromes Acrocallosal sdr Aicardi sdr Andermann sdr Trisomy 8, 13, 18 Fryn sdr Marden-Walker sdr Meckel-Gruber sdr Miller Diexer sdr Neu-Laxova sdr Septo-optic dysplasia Walker-Warburg sdr Zellweger sdr Apert sdr Baller-Gerold sdr Coffin-Siris sdr Crouzon sdr Fetal alcohol sdr FG sdr Fronto-nasal dysplasia Gorlin sdr Lens dysplasia Marshall-Smith sdr Opitz sdr Shapiro sdr and many more..
  24. 24. Disgenezia Corpului Calos Corpus Callosum Agenesis – Clinic - Convulsions - Affected motor development (position, walking, limb movements) - Cognitive disorders (memory impairment, lack of spatial awareness, mental retardation) - Vision and hearing problems Manifestations can range from asymptomatic to symptomatic, while 80% of the cases have a severe neurological clinic
  25. 25. Disgenezia Corpului Calos Corpus Callosum Agenesis – Diagnosis Ultrasound (USG) Magnetic Resonance Imaging (MRI) Computer Tomography (CT) Fast, reliable diagnosisPrenatal useGood visualization Superior visualization Not for prenatal useGood visualization ClaustrophobiaPrenatal use
  26. 26. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Visualization of the Corpus Callosum Visualization of the Cavum Septum Pellucidum Confirmation of Third Ventricle expansion Measurement of posterior horns of the Lateral Ventricles Finding pericallosal artery with Doppler Scan criteria:
  27. 27. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Visualization of the Corpus Callosum  It can be scanned in sagittal and coronal plane;  Requires experience from the operator;  Nowadays, it’s not included in the standard scanning protocol;  If there is a pathology of the brain – visualization and examination of the Corpus Callosum is mandatory;  In most cases, the absence of callosal structure determines gyral displacement.
  28. 28. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Visualization of the Corpus Callosum Corpus Callosum and normal gyral configuration Lack of callosal structure and gyral displacement
  29. 29. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Visualization of the Cavum Septum Pellucidum  The cavity can be scanned in all three planes - axial, sagittal and coronal;  It can’t be found in total agenesis, but can be seen in partial agenesis;  Visualization is possible from 17 until 37 weeks of gestation;  Lack of visualization until 20 weeks of gestation is considered to be normal;  In some cases the presence of the cavity can be misleading by: fusion of the frontal horns of Lateral Ventricles, expansion of the Third Ventricle, presence of interhemispheric cyst.
  30. 30. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Visualization of the Cavum Septum Pellucidum Cavity is present No cavity
  31. 31. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Expansion of the Third Ventricle  It’s widely considered that absence of posterior part of the callosal structure determines distortion in the occipital lobe, with Third Ventricle expansion;  Third Ventricle expands upwards where normally should be the Cavum Septum Pellucidum;  The expansion causes lateralization of frontal horns of the Lateral Ventricles and dilatation of the interhemispheric fissure;  According to some researches, poor prognosis of the agenesis is based on ventricular expansion and the dilatation of this fissure.
  32. 32. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG
  33. 33. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Expansion of the Third Ventricle
  34. 34. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Posterior horns of the Lateral Ventricles  Dilatation is considered a nonspecific sign, because it can be found in several cerebral anomalies – Agenesis of the Corpus Callosum, Chiari malformation, Lissencephaly, Microcephaly and other. It can be unilateral or bilateral;  It’s measured in axial plane, and the width should not exceed 10 mm near the antrum level;  In 40% of the cases, there is also an expansion of the Third Ventricle, the absence of pericallosal artery and borderline hydrocephalus.
  35. 35. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Dilatation of the posterior horn has a shape of a tear drop Posterior horns of the Lateral Ventricles
  36. 36. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Doppler examination of the pericallosal artery  Important marker in establishing the agenesis. It can be scanned in sagittal plane, at the level of callosal structure. At this level, Color or Power Doppler can be applied to identify the vessel;  There are several situations: - normal: visualization of the entire pathway of the artery; - partial agenesis: only half of the pathway can be seen; - total agenesis: lack of visualization.
  37. 37. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Normal
  38. 38. Corpus Callosum Agenesis – USG Partial agenesis
  39. 39. Corpus Callosum Agenesis – USG Total agenesis
  40. 40. Disgenezia Corpului Calos Corpus Callosum Agenesis – Conclusion  Corpus Callosum is a structure of invaluable importance for normal brain functioning and further development of the child;  Clinical manifestations can be different, and there is no treatment for callosal absence;  Management of this condition requires team effort from different specialties, especially when associated with other anomalies;  Radiology is the forefront in diagnosis of this condition, while Ultrasound remains the golden standard.
  41. 41. Disgenezia Corpului Calos “Only if you have been in the deepest valley, can you ever know how magnificent it is to be on the highest mountain.” Richard Nixon 37th U.S. President
  42. 42. Disgenezia Corpului Calos Bibliography - https://sonoworld.com/TheFetus/page.aspx?id=3602 - https://sonoworld.com/TheFetus/page.aspx?id=2854 - https://sonoworld.com/TheFetus/page.aspx?id=2365 - https://sonoworld.com/TheFetus/page.aspx?id=2296 - https://sonoworld.com/TheFetus/page.aspx?id=2244 - https://sonoworld.com/TheFetus/page.aspx?id=1782 - https://sonoworld.com/TheFetus/page.aspx?id=1515 - https://sonoworld.com/TheFetus/page.aspx?id=107 - https://sonoworld.com/TheFetus/page.aspx?id=78 - https://sonoworld.com/TheFetus/page.aspx?id=73 - https://sonoworld.com/TheFetus/page.aspx?id=2231 - https://sonoworld.com/TheFetus/page.aspx?id=2160 - https://sonoworld.com/TheFetus/page.aspx?id=2427 - https://sonoworld.com/TheFetus/page.aspx?id=3860 - https://www.slideshare.net/drprashant24/disorders-of-corpus-callosum - https://www.slideshare.net/abinash66/congenital-malformations-of-brain- 54771577 - https://www.slideshare.net/apdiwakar/abnormalities-of-corpus-callosum-musk - https://www.slideshare.net/drprashant24/disorders-of-corpus-callosum - https://www.slideshare.net/MarwanAlhalabi/corpus-callosum-anomalies- 62947741 - https://embryology.med.unsw.edu.au/embryology/index.php/Neural_- _Cerebrum_Development#Corpus_Callosum - https://www.tandfonline.com/doi/abs/10.3109/14722240108500414 - https://www.sciencedirect.com/science/article/pii/S2305050016300069 - http://www.fetalsono.com/teachfiles/acc.lasso - https://emedicine.medscape.com/article/407730-overview - http://www.fetalultrasound.com/online/text/5-077.HTM - http://onlinelibrary.wiley.com/doi/10.1002/uog.12367/full - https://link.springer.com/article/10.1007/s40556-015-0041-3 - http://onlinelibrary.wiley.com/doi/10.1002/uog.12506/pdf - https://fetalmedicine.org/abstracts/2014/abstracts/512.pdf - https://fetalmedicine.com/synced/fmf/2007_30.pdf - https://www.ncbi.nlm.nih.gov/pubmed/15205144 - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964797/ - https://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/ - http://eradiology.bidmc.harvard.edu/LearningLab/central/Raghavan.pdf - https://history.medsci.ox.ac.uk/seminars/history-of-medical-sciences-seminar- series/prof-mitch-glickstein-the-curious-history-of-the-corpus-callosum-its-role- in-memory-storage-and-the-localization-of-function-in-the-cerebral-cortex/ - https://link.springer.com/chapter/10.1007/978-1-4899-1427-9_1 - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2774850/ - https://www.ncbi.nlm.nih.gov/pubmed/2453812 - https://www.ncbi.nlm.nih.gov/pubmed/14628116 - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2964797/ - https://radiopaedia.org/articles/dysgenesis-of-the-corpus-callosum - http://www.medlink.com/article/agenesis_of_the_corpus_callosum - https://umaine.edu/edhd/research/acc/what-is-agenesis-of-the-corpus- callosum-acc/ - https://www.sciencedirect.com/science/article/pii/S2305050016300069 - http://www.ajnr.org/content/30/2/257 - https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-36-64 - https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-36-64 - https://www.radiologymasterclass.co.uk/tutorials/ct/ct_brain_anatomy/ct_brain _anatomy_white_matter - https://www.ncbi.nlm.nih.gov/pubmed/9757323 - http://www.clinicalradiologyonline.net/article/S0009-9260(14)00500-5/fulltext - https://www.tandfonline.com/doi/abs/10.3109/14722240108500414

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