Corpus callosum dysgenesis
Diagnosis almost certain
Disclosures
- updated 11 May 2022:
Nothing to disclose
Updates to Study Attributes
Findings
was changed:
Wide spacing of the occipital horns of the lateral ventricles (partial racing car sign). Suggestive, suggestive of dysgenesis of the splenium of the corpus callosum.
Widening of the subarachnoid spaces anteriorly.
Updates to Case Attributes
Body
was changed:
The most common craniofacial abnormality associated with corpus callosum dysgenesis is hypertelorism.
Isolated corpus callosum dysgenesis can be asymptomatic, but other associations and underlying abnormalities should be actively sought for management and prognostication. Associations include aneuploidy syndromes; non-aneuploidy syndromes (e.g. fatal alcohol syndrome); other structural brain abnormalities; and inborn errors of metabolism.
-<p>The most common craniofacial abnormality associated with corpus callosum dysgenesis is hypertelorism.</p><p>Isolated corpus callosum dysgenesis can be asymptomatic, but other associations and underlying abnormalities should be actively sought for management and prognostication. Associations include aneuploidy syndromes; non-aneuploidy syndromes (e.g. fatal alcohol syndrome); other structural brain abnormalities; and inborn errors of metabolism.</p>- +<p>The most common craniofacial abnormality associated with <a title="Corpus callosum dysgenesis" href="/articles/dysgenesis-of-the-corpus-callosum">corpus callosum dysgenesis</a> is <a title="Hypertelorism" href="/articles/hypertelorism">hypertelorism</a>.</p><p>Isolated corpus callosum dysgenesis can be asymptomatic, but other associations and underlying abnormalities should be actively sought for management and prognostication. Associations include aneuploidy syndromes; non-aneuploidy syndromes (e.g. fatal alcohol syndrome); other structural brain abnormalities; and inborn errors of metabolism.</p>
References changed:
- 1. Dávila-Gutiérrez G. Agenesis and Dysgenesis of the Corpus Callosum. Semin Pediatr Neurol. 2002;9(4):292-301. <a href="https://doi.org/10.1053/spen.2002.32505">doi:10.1053/spen.2002.32505</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/12523553">Pubmed</a>
- 2. D’Antonio F, Pagani G, Familiari A et al. Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-Analysis. Pediatrics. 2016;138(3). <a href="https://doi.org/10.1542/peds.2016-0445">doi:10.1542/peds.2016-0445</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/27581855">Pubmed</a>
- 3. Rotmensch S & Monteagudo A. Agenesis of the Corpus Callosum. Am J Obstet Gynecol. 2020;223(6):B17-22. <a href="https://doi.org/10.1016/j.ajog.2020.08.179">doi:10.1016/j.ajog.2020.08.179</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/33168219">Pubmed</a>
- Dávila-Gutiérrez G. Agenesis and dysgenesis of the corpus callosum. Semin Pediatr Neurol. 2002 Dec;9(4):292-301. doi: 10.1053/spen.2002.32505. PMID: 12523553.
- D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F. Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis. Pediatrics. 2016 Sep;138(3):e20160445. doi: 10.1542/peds.2016-0445. PMID: 27581855.
- Society for Maternal-Fetal Medicine (SMFM), Rotmensch S, Monteagudo A. Agenesis of the Corpus Callosum. Am J Obstet Gynecol. 2020 Dec;223(6):B17-B22. doi: 10.1016/j.ajog.2020.08.179. Epub 2020 Nov 7. PMID: 33168219.