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Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea

Congenital chloride diarrhea is a rare autosomal recessive disease characterized by profound watery diarrhea and is known to be caused by mutations in the gene encoding the intestinal chloride/bicarbonate (Cl–/HCO3–) exchanger. The main problems faced by neonates with this disease are dehydration, electrolyte imbalances, and metabolic alkalosis caused by the diarrhea, all of which can be life threatening. However, the long-term outcome is good if the condition is diagnosed early and managed appropriately. Congenital chloride diarrhea begins in fetal life, and previous case reports have described in utero sonographic findings, including polyhydramnios and multiple distended bowel loops.1–7 Although characteristic of congenital chloride diarrhea, these findings can also be observed in fetal smallbowel obstruction, making it difficult to arrive at a definitive diagnosis during fetal life. Generalized bowel dilatation and normal peristalsis may suggest the diagnosis of congenital chloride diarrhea over bowel obstruction, but these findings are subjective. Indeed, it seems that congenital chloride diarrhea is frequently misdiagnosed as smallbowel obstruction, resulting in unnecessary anesthesia and surgery.8,9 There is no definitive cure for the diarrhea, but accurate prenatal diagnosis is important to exclude a surgically treatable condition, to improve patient care, and to provide appropriate counseling about the expected disease course. A 27-year-old woman, gravida 2, para 1, was referred to our hospital at a gestational age of 34 weeks 4 days with polyhydramnios and a distended fetal bowel. Sonography was performed with a Voluson E8 system (GE Healthcare, Waukesha, WI), which showed a single fetus of a size consistent with dates. Polyhydramnios was noted, with the deepest amniotic fluid pocket measuring 9.3 cm. Uniformly dilated bowel loops with a honeycomb appearance were seen (Figure 1A), and bowel peristalsis was recognized. At first, we suspected fetal small-bowel obstruction, but a detailed examination using color Doppler mapping revealed a frequent streaming motion at the fetal anus, suggestive of diarrheal stool passage (Figure 1B). On the basis of these findings, we diagnosed fetal congenital chloride diarrhea. At 35 weeks 2 days, premature rupture of membranes occurred. Speculum examination showed brownish red, watery fluid leaking (Figure 1C). Analysis of this amniotic fluid revealed the following values: alkaline phosphatase, 2437 U/L; γ-glutamyl transferase, 306 U/L; sodium, 137 mmol/L; potassium, 4.5 mmol/L, Cl–, 110 mmol/L; calcium, 7.0 mg/dL; and magnesium, 1.6 mg/dL. Labor occurred spontaneously and progressed uneventfully, resulting in delivery of a male neonate weighing 2130 g with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. The neonate had an episode of watery diarrhea, similar in consistency to amniotic fluid, just after delivery (Figure 1D). His general condition was good, but he was admitted to the neonatal intensive care unit as a preterm neonate. His stool