[Congenital chloride diarrhea mimicking meconium ileus in newborn]

Congenital chloride diarrhoea is a rare autosomal recessive disease and the diagnosis is frequently delayed. The disease is most common in Saudi Arabia and Kuwait 1:3200-13 000 births, Finland - 1:30 000-40 000, and in Poland - 1:200 000. Congenital chloride diarrhoea begins in fetal life. The main clinical sign is watery diarrhea that in utero leads to dilated bowel loops, polyhydramnios and often premature birth. Newborns have distended abdomens, absence of meconium, dilated bowel loops in ultrasonography and watery diarrhea which can sometimes be mistaken for urine. The absence of meconium and the distended abdomen suggest meconium ileus or Hirschsprung disease and can lead to unnecessary surgical intervention. The article is a report on a 3-months old boy with the history of dilated bowel loops in prenatal ultrasonograhy, low birth weight and abdominal distention. Because of the suspicion of mechanical bowel obstruction he had laparotomy on the second day of his life. Mechanical obstruction was excluded and enterostomy was performed. Hyponatremia, hypokaliemia and metabolic alkalosis were found in laboratory tests. The electrolyte disturbances were corrected and enterostomy was closed after six weeks. The final diagnosis of congenital chloride diarrhea was established two months later, when the patient was admitted to hospital again with severe watery diarrhea, metabolic alkalosis, hypochloraemia and hypokalemia. The stool chloride concentration was >90 mmol/L. Water and electrolyte deficits had been corrected. The patient was discharged home with supplementation of sodium, potassium and chloride. His follow-up was uneventful. He remains under the care of the pediatric clinic.