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Disgenezia Corpului Calos
Corpus Callosum
Agenesis
Imaging Diagnosis
Author: Mentors:
Dr Rhodica Chertan-Bejan
Dr Vyacheslav Moshin Jr
Dr Feodosy Bejan
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.
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.
Disgenezia Corpului Calos
Commissures of the
Disgenezia Corpului Calos
Corpus Callosum – Embriology
Disgenezia Corpului Calos
Structure - schematic
Structure - USG
Structure - MRI
Structure - MRI
Disgenezia Corpului Calos
Structure - MRI
Disgenezia Corpului Calos
CC – related structures
Disgenezia Corpului Calos
CC – related structures
Disgenezia Corpului Calos
CC – related structures
Disgenezia Corpului Calos
CC – related structures
Disgenezia Corpului Calos
CC – related structures
Disgenezia Corpului Calos
CC – related structures
Disgenezia Corpului Calos
Vascular supply – schematic
Disgenezia Corpului Calos
Vascular supply – USG
Power Doppler Color Doppler
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
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.
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
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
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..
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
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
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:
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.
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
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.
Disgenezia Corpului Calos
Corpus Callosum Agenesis – USG
Visualization of the Cavum Septum Pellucidum
Cavity is present No cavity
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.
Disgenezia Corpului Calos
Corpus Callosum Agenesis – USG
Disgenezia Corpului Calos
Corpus Callosum Agenesis – USG
Expansion of the Third Ventricle
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.
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
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.
Disgenezia Corpului Calos
Corpus Callosum Agenesis – USG
Normal
Corpus Callosum Agenesis – USG
Partial agenesis
Corpus Callosum Agenesis – USG
Total agenesis
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.
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
Disgenezia Corpului Calos
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Agenesis of the Corpus Callosum

  • 1. Disgenezia Corpului Calos Corpus Callosum Agenesis Imaging Diagnosis Author: Mentors: Dr Rhodica Chertan-Bejan Dr Vyacheslav Moshin Jr Dr Feodosy Bejan
  • 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. 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.
  • 5. Disgenezia Corpului Calos Corpus Callosum – Embriology
  • 11. Disgenezia Corpului Calos CC – related structures
  • 12. Disgenezia Corpului Calos CC – related structures
  • 13. Disgenezia Corpului Calos CC – related structures
  • 14. Disgenezia Corpului Calos CC – related structures
  • 15. Disgenezia Corpului Calos CC – related structures
  • 16. Disgenezia Corpului Calos CC – related structures
  • 17. Disgenezia Corpului Calos Vascular supply – schematic
  • 18. Disgenezia Corpului Calos Vascular supply – USG Power Doppler Color Doppler
  • 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Visualization of the Cavum Septum Pellucidum Cavity is present No cavity
  • 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. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG
  • 33. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Expansion of the Third Ventricle
  • 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. 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. 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. Disgenezia Corpului Calos Corpus Callosum Agenesis – USG Normal
  • 38. Corpus Callosum Agenesis – USG Partial agenesis
  • 39. Corpus Callosum Agenesis – USG Total agenesis
  • 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. 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
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