Agenesis Corpus Callosum

1. 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
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.

4.  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
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.

7.  Most cases are asymptomatic, and the
symptoms usually become apparent at the
beginning of adolescence
 Neurodevelopmental symptoms
 Cognitive impairments (autism)
 Motoric impairments (fine motor control)
 Seizures / epilepsy
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.

9. 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

10. 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. 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

12. 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. 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. 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.

15.  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.