Francesco Pisani, Maria-Edgarda Bianchi, Giovanni Piantelli, Dandolo Gramellini, Giulio Bevilacqua
Developmental Neuropsychiatric Unit, University of Parma, Parma, Italy.
Pediatr Int. 2006 Jun;48(3):298-304. doi: 10.1111/j.1442-200X.2006.02208.x.
Corpus callosum is the largest cerebral commissure that connects neocortical areas. Agenesis of corpus callosum (ACC) can be partial or complete, isolated or associated with other malformations. Its prenatal diagnosis creates problems within parental counselling due to its uncertain prognosis. The aim of this study was to correlate the neurodevelopmental outcome with both the clinical picture and the neuroradiological features, in order to improve prenatal parental counselling in a group of nine children with ACC, prenatally diagnosed by ultrasound and then confirmed by postnatal magnetic resonance imaging (MRI).
In all patients, cerebral ultrasound scans, electroencephalogram (EEG) examinations, cerebral MRI, cytogenetic analysis, general physical evaluation, neurological examination and neuropsychological assessment (Griffiths Scale, Wechsler Primary and Preschool Scale of Intelligence, Wechsler Intelligence Scale for Children) were carried out.
In six patients the callosal agenesis was isolated, while in 3/9 it was associated with other cerebral malformations. Children with isolated callosal agenesis were asymptomatic or presented a mild hypotonia and the EEG was normal in five of them. All children with other associated brain malformations presented epilepsy, poor psychomotor development and cerebral palsy.
The prenatal suspicion of ACC needs an accurate diagnostic approach, in order to well determine its isolated or associated nature, linked to different neurodevelopmental outcome.
胼胝体是连接新皮质区域的最大脑连合。胼胝体发育不全（ACC）可以是部分或完全的，孤立的或与其他畸形相关。由于其预后不确定，其产前诊断在为父母提供咨询时会产生问题。本研究的目的是将神经发育结果与临床表现和神经放射学特征相关联，以改善一组9名经超声产前诊断并随后经产后磁共振成像（MRI）证实患有ACC的儿童的产前父母咨询。
对所有患者进行脑部超声扫描、脑电图（EEG）检查、脑部MRI、细胞遗传学分析、全身体格评估、神经学检查和神经心理学评估（格里菲斯量表、韦氏幼儿智力量表、韦氏儿童智力量表）。
6例患者胼胝体发育不全为孤立性，而3/9例与其他脑部畸形相关。孤立性胼胝体发育不全的儿童无症状或表现为轻度肌张力减退，其中5例脑电图正常。所有伴有其他相关脑部畸形的儿童均出现癫痫、精神运动发育不良和脑瘫。
产前怀疑ACC需要准确的诊断方法，以便很好地确定其孤立性或相关性，这与不同的神经发育结果相关。
