关于子宫内孤立的小脑发育不全的神经预后的数据很少且不一致。在这项单中心回顾性研究中,我们描述了一系列孤立的小脑发育不全患儿的神经发育结局,这些小脑发育不全可能是在产前用胎儿磁共振成像(fMRI)检测到的出血原因.我们回顾性地回顾了所有被转诊接受神经学咨询的孕妇的图表,在我们机构的胎儿治疗部门,在2010年至2020年期间诊断为胎儿脑病/中断。所有妊娠均进行胎儿MRI(fMRI)。选择可能是出血性小脑发育不全的胎儿进行研究。排除了暴露于酒精或在其他大脑或身体区域有其他畸形的胎儿。所有婴儿都接受了我们中心采用的产后随访护理,包括产后核磁共振,连续的神经系统检查,标准化的神经发育测试,和定期的父母采访。用GRIFFITHSII测试了认知功能,WPPSI-III,和WISC-IV根据孩子的年龄。在479例胎儿咨询中,共有14例孕妇符合资格,并被纳入研究组。在57%的案例中,出血的病因不明.在21%的案例中,这归因于输血,而在剩下的,这归因于母亲的诱发因素.在幸存者中,两名婴儿因早产被排除在外,还有两个失去了随访。因此,10名患者被包括在研究中。6例患者神经发育和认知正常,三个表现出轻度-中度的神经系统症状,即,轻度运动障碍和视觉感知障碍。只有一个孩子有严重的结果,即,自闭症谱系障碍.小脑在其长期发育过程中特别容易受到破坏。考虑到在急性期,在产前咨询中必须格外小心,fMRI可以高估病变的扩展和Vermis累及。在不确定的情况下,建议在4-8周后再进行fMRI.然而,在我们的系列中,孤立性小脑发育不全的婴儿往往预后良好.然而,需要进行长期随访,应包括产后脑部MRI,连续的神经系统检查,和神经发育测试至少到学龄期。
Data about the neurological prognosis of isolated cerebellar hypoplasia in utero are scant and inconsistent. In this monocentric retrospective
study, we describe the neurodevelopmental outcomes in a series of children with isolated cerebellar hypoplasia of presumably hemorrhagic origin prenatally detected with fetal magnetic resonance imaging (fMRI). We retrospectively reviewed the charts of all the pregnant women who were referred for a neurological consultation, diagnosed with fetal encephalic malformation/disruption between 2010 and 2020 in the Fetal Therapy Unit of our institution. Fetal MRI (fMRI) was performed in all the pregnancies. Fetuses with cerebellar hypoplasia presumably of hemorrhagic origin were selected for the
study. Fetuses exposed to alcohol or with additional malformations in other cerebral or body areas were excluded. All the infants received the postpartum follow-up care adopted in our center, including post-natal MRI, serial neurological examinations, standardized neurodevelopmental tests, and regular parental interviews. Cognitive functions were tested with GRIFFITHS II, WPPSI-III, and WISC-IV according to the child\'s age. A total of 14 pregnant women out of 479 fetal consultations were eligible and included in the
study group. In 57% of cases, the etiology of the hemorrhage was unknown. In 21% of cases, it was attributed to a blood transfusion, while in the remaining ones, it was attributed to maternal predisposing factors. Among the survivors, two infants were excluded for prematurity, and two were lost to follow-up. Ten patients were thus included in the
study. Six patients had normal neurodevelopment and cognition, and three presented mild-moderate neurological signs, i.e., mild dyspraxia and visuoperceptual impairment. Only one child had a severe outcome, i.e., autism spectrum disorder. The cerebellum is particularly vulnerable to disruptions throughout its prolonged development. Extreme caution must be used in prenatal counseling considering that in the acute phase, lesion extension and vermis involvement can be overestimated with fMRI. In cases of uncertainty, performing an additional fMRI could be advisable after 4-8 weeks. However, in our series, infants with isolated cerebellar hypoplasia tended to have a favorable prognosis. Nevertheless, a long-term follow-up is needed and should include a postnatal brain MRI, serial neurological examinations, and neurodevelopmental tests at least up to school age.