[Congenital chloride diarrhea mimicking meconium ileus in newborn].

[hirschsprung disease]

Congenital chloride diarrhoea is a Â 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 Â report on a Â 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 .

Diseases
Validation

Diseases presenting "fetal life" symptom

aromatase deficiency

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

harlequin ichthyosis

hirschsprung disease

kallmann syndrome

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