Neonatal-Onset Chronic Intestinal Pseudo-Obstruction Syndrome with In Utero Urological Manifestation as Megacystis

SummaryObjectiveWe describe a case of neonatal-onset chronic intestinal pseudo-obstruction syndrome (CIPS) with in utero urological manifestation as congenital megacystis. Pitfalls in the interpretation of prenatal sonographic appearance, genetic counseling, and differential diagnosis are discussed.Case ReportA 28-year-old Taiwanese woman, gravida 6, para 3, was referred for further sonographic examination because of a suspected fetal abdominal cyst. Targeted ultrasound at 28 weeks' gestation showed megacystis filling the abdominal cavity. The renal parenchyma appeared normal, and there was no evidence of reflux hydroureteronephrosis. At 38 weeks of gestation, the patient spontaneously delivered a female infant weighing 3,350 g with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. At the age of 12 days, the infant still required Foley catheterization because of voiding difficulty, so reduction cystoplasty was performed. The infant presented with recurrent episodes of intestinal obstruction thereafter and underwent ileostomy and resections of segmental intestine loops (3 times) in the ensuing years. At the age of 6 years, she is orally fed with partial parenteral infusion support, and the voiding act is satisfactory.ConclusionAttention should be given to the prenatal diagnosis of neonatal-onset CIPS when fetal congenital megacystis with unknown etiology is first detected. Whether there is any relationship between the megacystismicrocolon-intestinal-hypoperistalsis syndrome, CIPS, and pure congenital megacystis requires further study