Tonni Gabriele, Azzoni Daniela, Ventura Alessandro, Ambrosetti Fabrizio, De Felice Claudio
Prenatal Diagnostic Service, Division of Obstetrics and Gynecology, Guastalla Provincial Hospital-AUSL Reggio Emilia, Reggio Emilia, Italy.
Fetal Pediatr Pathol. 2008;27(6):264-73. doi: 10.1080/15513810802448076.
Agenesis of the corpus callosum is found in about 5 per 1,000 births and it is due to maldevelopment or, secondary, to destructive lesions. Multicystic dysplastic kidneys is a consequence of either developmental failure of the mesonephric blastema to form nephrons or to early urinary obstruction due to urethral or ureteric atresia and can be found in about 1 per 1,000 live births. A case of fetal multicystic dysplastic kidney disease (Potter type II syndrome) and complete agenesis of the corpus callosum demonstrated by the presence of Probst bundles associated with colpocephaly occurring in the same mother in her two consecutive pregnancies is reported. Data regarding possible teratogenetic effect due to electromagnetic exposure in utero have also been investigated and raised suspicionus as a potential risk factor. In cases of suspected second trimester ultrasound diagnosis of agenesis of corpus callosum (ACC), the following clinical management should be recommended: fetal karyotype; a second level scan with differentiation between underlying conditions such as hydrocephalus and holoprosencephaly; antenatal MRI to enhance the diagnostic accuracy of possible associated neuronal migration (when possible); and direct demonstration of the presence of the Probst bundles to neurohistology.
胼胝体发育不全在每1000例出生中约有5例出现，其原因是发育不良或继发于破坏性病变。多囊性发育不良肾是中肾胚芽发育失败无法形成肾单位，或因尿道或输尿管闭锁导致早期尿路梗阻的结果，每1000例活产中约有1例可见。本文报告了一例胎儿多囊性发育不良肾病（波特II型综合征）和胼胝体完全发育不全的病例，该病例通过同一母亲连续两次怀孕时出现的与脑室积水相关的普罗布斯特束得以证实。关于子宫内电磁暴露可能产生的致畸作用的数据也已进行调查，并引发了对其作为潜在风险因素的怀疑。对于孕中期超声疑似诊断为胼胝体发育不全（ACC）的病例，应建议采取以下临床处理措施：胎儿核型分析；进行二级扫描以区分脑积水和前脑无裂畸形等潜在情况；进行产前磁共振成像（MRI）以提高对可能相关的神经元迁移的诊断准确性（如有可能）；以及向神经组织学直接证明普罗布斯特束的存在。
