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The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition.

Imperforate anus or anorectal atresia is often associated with major fetal structural defects but it may also be an isolated abnormality. Prenatal diagnosis is difficult but may be assisted by ultrasound detection of enterolithiasis in dilated bowel and confirmed by MRI study. We report a case of imperforate anus in which enterolithiasis with dilated bowel was detected by ultrasound examination at 25 weeks of gestation and confirmed by MRI examination. At birth, the newborn was diagnosed to have a low type of imperforate anus.A 26-year-old woman gravida 2 para 2 presented to the ultrasound unit at 25 weeks of spontaneous gestation for routine screening. Ultrasound examination using Esaoti (MyLabSIX) machine equipped with 7-10-MHz probes, revealed dilated bowel with intraluminal circular hyperechogenic structures associated with single umbilical artery. No other malformation could be depicted on ultrasound study. Follow-up ultrasound examinations at 28 weeks gestation showed progressive dilatation of bowel and persistence of intraluminal echogenic foci (Fig. 1). MRI examination, was performed on GE 1.5 Tesla superconducting magnet. Axial T1 W images are obtained using 256 · 160 matrix, 48 cm field of view (FOV), 4 mm slice thickness, 2 mm interslice gap, and 1 number of excitation (NEX). High-resolution T2 W images of pelvis are acquired in axial, sagittal, and coronal planes using 256 · 256 matrix, 48 cm FOV, 4 mm slice thickness, 0.4 mm interslice gap, and 0.53 NEX.MRI confirmed at 32 weeks of gestation dilated bowel loops and detected rectal obstruction. The rectal cul-de-sac was located at a level lower than the level of the bladder neck, confirming low anorectal malformation (Fig. 2a) with abnormal and heterogeneous fluid signal on T1 and T2 weighted images: the usual hyperintensity on T1 and hypointensity on T2 of meconium was not identified (Fig. 2b). The urinary bladder was normal. A 3150 g male was born spontaneously at 35 weeks of gestation, with Apgar score (healthy infant score) of 8/9. Esophageal continuity had been confirmed by passing 8 cm red rubber catheter into the stomach. Physical examination revealed an absence of an anal opening and a massively distended abdomen. The abdominal radiograph demonstrated a cluster of multiple calcified shadows, cardiomegaly, and left side pneumothorax associated with right pulmonary hypoplasia (Fig. 3). Abdominal ultrasound confirmed the dilated small and large bowels. Echocardiography done after Abbreviation: ARM, anorectal malformation