Agenesis Corpus Callosum

Agenesis Corpus Callosum

1. Agenesis Corpus Callosum Ade Wijaya , MD – July 2021

2. The largest white matter structure of the human brain, which is located at the bottom of the longitudinal fissure, also serving as the cover for the lateral ventricles and connecting cerebral hemispheres Corpus Callosum Anatomy Knezovi´c , V.; Kasprian , G.; Štajduhar , A.; Schwartz, E.; Weber, M.; Gruber, G.; Brugger , P.; Prayer, D.; Vukši´c , M. Underdevelopment of the Human Hippocampus in Callosal Agenesis: An In Vivo Fetal MRI Study. Am. J. Neuroradiol . 2019, 40, 576–581.

3. Prevalence: 1:5000 to 1:4000 (0.020–0.025%) The genetic cause is identifiable for 30–45% of ACC cases, with approximately 10% of them having chromosomal abnormalities and the remaining 20–35% being single gene mutations Epidemiology & Etiology Weise, J.; Heckmann , M.; Bahlmann , H.; Ittermann , T.; Allenberg , H.; Domanski , G.; Lange, A.E. Analyses of pathological cranial ultrasound findings in neonates that fall outside recent indication guidelines: Results of a population-based birth cohort: Survey of neonates in Pommerania ( SNiP -study). BMC Pediatr 2019, 19, 476. Sefidbakht , S.; Dehghani , S.; Safari, M.; Vafaei , H.; Kasraeian , M. Fetal Central Nervous System Anomalies Detected by Magnetic Resonance Imaging: A Two-Year Experience. Iran. J. Pediatr . 2016, 26, e4589. Jouan , L.; Bencheikh , B.O.A.; Daoud , H.; Dionne- Laporte , A.; Dobrzeniecka , S.; Spiegelman , D.; Rochefort , D.; Hince , P.; Szuto , A.; Lassonde , M.; et al. Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum . Eur. J. Hum. Genet. 2016, 24, 607–610.

4. Etiology

5. Etiology

6. Most cases are asymptomatic, and the symptoms usually become apparent at the beginning of adolescence Neurodevelopmental symptoms Cognitive impairments (autism) M otoric impairments (fine motor control) Seizures / epilepsy Clinical Features Hofman J, Hutny M, Sztuba K, Paprocka J. Corpus callosum agenesis: an insight into the etiology and spectrum of symptoms. Brain Sciences. 2020 Sep;10(9):625.

7. Neuroimaging

8. Colpocephaly A disproportionate prominence of the occipital horns of the  lateral ventricles . Al- Hashim , A.H.; Blaser , S.; Raybaud , C.; MacGregor , D. Corpus callosum abnormalities: Neuroradiological and clinical correlations. DMCN 2016, 58, 475–484. Radiopaedia.org

9. Al- Hashim , A.H.; Blaser , S.; Raybaud , C.; MacGregor , D. Corpus callosum abnormalities: Neuroradiological and clinical correlations. DMCN 2016, 58, 475–484. Radiopaedia.org

10. Probst Bundles longitudinal callosal fascicles, Probst bundles are aberrant anterior-posterior white matter tracts that form in agenesis of the corpus callosum . Al- Hashim , A.H.; Blaser , S.; Raybaud , C.; MacGregor , D. Corpus callosum abnormalities: Neuroradiological and clinical correlations. DMCN 2016, 58, 475–484. Radiopaedia.org

11. Associated Neuroradiological Features Palmer EE, Mowat D. 2014. Agenesis of the corpus callosum : A clinical approach to diagnosis. Am J Med Genet Part C Semin Med Genet 9999:1–14.

12. Antenatal Diagnosis Palmer EE, Mowat D. 2014. Agenesis of the corpus callosum : A clinical approach to diagnosis. Am J Med Genet Part C Semin Med Genet 9999:1–14.

13. Postnatal Diagnosis Palmer EE, Mowat D. 2014. Agenesis of the corpus callosum : A clinical approach to diagnosis. Am J Med Genet Part C Semin Med Genet 9999:1–14.

14. Agenesis corpus callosum is a malformation with varied clinical presentation, depending on multiple factors. Its prenatal detection using imaging techniques and genetic analysis enables future planning of adequate care. The finding of ACC should prompt detailed clinical assessment in order to determine and manage the underlying condition. Summary

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