Cargando…

Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature

BACKGROUND: Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even...

Descripción completa

Detalles Bibliográficos
Autores principales: Guadarrama-Ortiz, Parménides, Choreño-Parra, José Alberto, de la Rosa-Arredondo, Tania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014647/
https://www.ncbi.nlm.nih.gov/pubmed/32046774
http://dx.doi.org/10.1186/s13256-020-2359-2
_version_ 1783496677465784320
author Guadarrama-Ortiz, Parménides
Choreño-Parra, José Alberto
de la Rosa-Arredondo, Tania
author_facet Guadarrama-Ortiz, Parménides
Choreño-Parra, José Alberto
de la Rosa-Arredondo, Tania
author_sort Guadarrama-Ortiz, Parménides
collection PubMed
description BACKGROUND: Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even in patients with no apparent deficits, subtle neuropsychological alterations may occur as the cognitive demand increases with age. Hence, patients with this deffect require a strict follow-up during their postnatal life. Thus, physicians require a better knowledge of the cognitive features of agenesis of the corpus callosum to improve their approach to this cerebral malformation. Here, we report an illustrative case of a school-age child with isolated agenesis of the corpus callosum and normal intelligence. We also provide a literature review about the postnatal screening of neurocognitive deficits in patients with agenesis of the corpus callosum. CASE PRESENTATION: An 8-year-old Hispanic boy with total agenesis of the corpus callosum attended for medical follow-up. The defect was identified during the neonatal period by cranial ultrasonography and brain computed tomography scan. However, he did not present any craniofacial or non-cerebral malformation suggestive of a congenital syndrome. Furthermore, he showed no neuropsychiatric disorder or intellectual disability during his early childhood. At the age of 4, he was subjected to a control brain magnetic resonance imaging that showed total agenesis of the corpus callosum and colpocephaly. At his arrival, a neurological examination was normal with no signs of intracranial hypertension. His intelligence quotient was unaltered and he scored normal in the Mini-Mental State Examination test. The literature reviewed here suggested that patients with agenesis of the corpus callosum require a strict neurocognitive follow-up during postnatal life, as they may present neuropsychological deficits during adolescence, when development of the corpus callosum is completed and there is maximum reliance on this structure. Thus, our patient was scheduled for future annual neurocognitive testing. CONCLUSIONS: Isolated agenesis of the corpus callosum is not innocuous, and patients with this defect require a strict neurocognitive follow-up. We provide an informative reference tool useful for the postnatal neuropsychological screening of patients with isolated agenesis of the corpus callosum.
format Online
Article
Text
id pubmed-7014647
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-70146472020-02-18 Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature Guadarrama-Ortiz, Parménides Choreño-Parra, José Alberto de la Rosa-Arredondo, Tania J Med Case Rep Case Report BACKGROUND: Agenesis of the corpus callosum can occur isolated or as part of a complex congenital syndrome. Patients with isolated agenesis of the corpus callosum may present with severe intellectual disability, although a proportion of affected individuals develop normal intelligence. However, even in patients with no apparent deficits, subtle neuropsychological alterations may occur as the cognitive demand increases with age. Hence, patients with this deffect require a strict follow-up during their postnatal life. Thus, physicians require a better knowledge of the cognitive features of agenesis of the corpus callosum to improve their approach to this cerebral malformation. Here, we report an illustrative case of a school-age child with isolated agenesis of the corpus callosum and normal intelligence. We also provide a literature review about the postnatal screening of neurocognitive deficits in patients with agenesis of the corpus callosum. CASE PRESENTATION: An 8-year-old Hispanic boy with total agenesis of the corpus callosum attended for medical follow-up. The defect was identified during the neonatal period by cranial ultrasonography and brain computed tomography scan. However, he did not present any craniofacial or non-cerebral malformation suggestive of a congenital syndrome. Furthermore, he showed no neuropsychiatric disorder or intellectual disability during his early childhood. At the age of 4, he was subjected to a control brain magnetic resonance imaging that showed total agenesis of the corpus callosum and colpocephaly. At his arrival, a neurological examination was normal with no signs of intracranial hypertension. His intelligence quotient was unaltered and he scored normal in the Mini-Mental State Examination test. The literature reviewed here suggested that patients with agenesis of the corpus callosum require a strict neurocognitive follow-up during postnatal life, as they may present neuropsychological deficits during adolescence, when development of the corpus callosum is completed and there is maximum reliance on this structure. Thus, our patient was scheduled for future annual neurocognitive testing. CONCLUSIONS: Isolated agenesis of the corpus callosum is not innocuous, and patients with this defect require a strict neurocognitive follow-up. We provide an informative reference tool useful for the postnatal neuropsychological screening of patients with isolated agenesis of the corpus callosum. BioMed Central 2020-02-12 /pmc/articles/PMC7014647/ /pubmed/32046774 http://dx.doi.org/10.1186/s13256-020-2359-2 Text en © The Author(s). 2020 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Guadarrama-Ortiz, Parménides
Choreño-Parra, José Alberto
de la Rosa-Arredondo, Tania
Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
title Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
title_full Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
title_fullStr Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
title_full_unstemmed Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
title_short Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
title_sort isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014647/
https://www.ncbi.nlm.nih.gov/pubmed/32046774
http://dx.doi.org/10.1186/s13256-020-2359-2
work_keys_str_mv AT guadarramaortizparmenides isolatedagenesisofthecorpuscallosumandnormalgeneralintelligencedevelopmentduringpostnatallifeacasereportandreviewoftheliterature
AT chorenoparrajosealberto isolatedagenesisofthecorpuscallosumandnormalgeneralintelligencedevelopmentduringpostnatallifeacasereportandreviewoftheliterature
AT delarosaarredondotania isolatedagenesisofthecorpuscallosumandnormalgeneralintelligencedevelopmentduringpostnatallifeacasereportandreviewoftheliterature