EP07.75: A rare case characterised by severe triventricular ventriculomegaly, schizencephaly, unilateral renal agenesis and persistent cloaca

Persistent cloaca is a rare anomaly characterised by the fusion of the rectum, vagina and urinary tract and opening out as a single channel. Severe ventriculomegaly is defined as the width of the lateral ventricle posterior horn ≥15mm at the level of the atrium. A 23 year-old, G1P0 pregnant woman applied to our clinic at 14+2/7 gestational weeks. USG examination showed that the choroid plexuses did not fill the lateral ventricles. Megacystis and a cystic mass at the upper lateral site of the bladder were also observed. At the 21 weeks of gestation, USG examination revealed severe triventricular ventriculomegaly, cerebellar hypoplasia, aberrant right subclavian artery (ARSA), right renal agenesis, a large bladder containing echogenic structures and absence of the anal sphincter. It was interpreted as a persistent cloaca. Additionally magnetic resonance imaging (MRI) at 27+2/7 gestational weeks revealed open-lip schizencephaly. At 31+2/7 gestational weeks the pregnant woman was delivered with Caesarean section due to anhydramnios. The intubated 1450g female infant died the next day after birth. In conclusion, postnatal examination revealed absence of the anus and low-set ears. The coexistence of persistent cloaca, severe ventriculomegaly, and schizencephaly is extremely rare. The presence of urogenital and anorectal anomalies in the patient and her family suggests that a genetically based disease may be present. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.