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Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature.
Journal of Medical Case Reports Pub Date : 2020-02-12 , DOI: 10.1186/s13256-020-2359-2 Parménides Guadarrama-Ortiz 1 , José Alberto Choreño-Parra 1 , Tania de la Rosa-Arredondo 1
Journal of Medical Case Reports Pub Date : 2020-02-12 , DOI: 10.1186/s13256-020-2359-2 Parménides Guadarrama-Ortiz 1 , José Alberto Choreño-Parra 1 , Tania de la Rosa-Arredondo 1
Affiliation
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.
中文翻译:
产后生活中孤立的call体发育不全和一般智力发育正常:病例报告和文献复习。
背景技术call体的发生可以单独发生或作为复杂的先天综合症的一部分发生。a体发育不全的患者可能会表现出严重的智力残疾,尽管一部分受影响的个体发展出正常的智力。然而,即使在没有明显缺陷的患者中,随着认知需求随年龄的增长,可能也会发生细微的神经心理学改变。因此,患有这种缺陷的患者在产后生活中需要严格的随访。因此,医生需要更好地了解a体发育不全的认知特征,以改善他们对这种脑畸形的治疗方法。在这里,我们报告了一个示例性案例,该案例显示的是一个学龄儿童,其isolated体发育不全且智力正常。我们还提供了有关call体发育不全患者神经认知缺陷的产后筛查的文献综述。病例介绍一名患有His体完全发育不全的8岁西班牙裔男孩接受了医学随访。在新生儿期,通过颅骨超声检查和脑计算机断层扫描可以发现该缺陷。但是,他没有出现任何暗示先天性综合征的颅面或非脑畸形。此外,他在幼儿时期没有神经精神障碍或智力障碍。在4岁时,他接受了对照脑磁共振成像,显示出call体和大头畸形的完全发生。在他到达时,神经系统检查正常,没有颅内高压的迹象。他的智商不变,他在小精神状态考试中的得分为正常。此处综述的文献表明,患有call体发育不全的患者在出生后的生活中需要严格的神经认知随访,因为他们可能会在青春期(psych体发育完成并且最大程度依赖这种结构)出现青春期的神经心理缺陷。因此,我们的患者被安排进行未来的年度神经认知测试。结论孤立的call体发育不全不是无害的,患有这种缺陷的患者需要严格的神经认知随访。我们提供了一个有用的参考工具,可用于对孤立的isolated体发育不全的患者进行产后神经心理学筛查。
更新日期:2020-04-22
中文翻译:
产后生活中孤立的call体发育不全和一般智力发育正常:病例报告和文献复习。
背景技术call体的发生可以单独发生或作为复杂的先天综合症的一部分发生。a体发育不全的患者可能会表现出严重的智力残疾,尽管一部分受影响的个体发展出正常的智力。然而,即使在没有明显缺陷的患者中,随着认知需求随年龄的增长,可能也会发生细微的神经心理学改变。因此,患有这种缺陷的患者在产后生活中需要严格的随访。因此,医生需要更好地了解a体发育不全的认知特征,以改善他们对这种脑畸形的治疗方法。在这里,我们报告了一个示例性案例,该案例显示的是一个学龄儿童,其isolated体发育不全且智力正常。我们还提供了有关call体发育不全患者神经认知缺陷的产后筛查的文献综述。病例介绍一名患有His体完全发育不全的8岁西班牙裔男孩接受了医学随访。在新生儿期,通过颅骨超声检查和脑计算机断层扫描可以发现该缺陷。但是,他没有出现任何暗示先天性综合征的颅面或非脑畸形。此外,他在幼儿时期没有神经精神障碍或智力障碍。在4岁时,他接受了对照脑磁共振成像,显示出call体和大头畸形的完全发生。在他到达时,神经系统检查正常,没有颅内高压的迹象。他的智商不变,他在小精神状态考试中的得分为正常。此处综述的文献表明,患有call体发育不全的患者在出生后的生活中需要严格的神经认知随访,因为他们可能会在青春期(psych体发育完成并且最大程度依赖这种结构)出现青春期的神经心理缺陷。因此,我们的患者被安排进行未来的年度神经认知测试。结论孤立的call体发育不全不是无害的,患有这种缺陷的患者需要严格的神经认知随访。我们提供了一个有用的参考工具,可用于对孤立的isolated体发育不全的患者进行产后神经心理学筛查。