Congenital chloride diarrhea is an autosomal recessive disease with an incidence ranging from 1/10000 to 1/40000. In the neonatal period, it presents with profuse watery diarrhea with high chloride concentration, dehydration, hypochloremia, hyponatremia, hypokalemia and metabolic alkalosis. Its prenatal diagnosis is possible by ultrasonographic examination which reveals generalized intestinal dilatation and polyhydramnios, however, these findings also indicates congenital intestinal obstruction resulting in misdiagnosis and unnecessary operations. The differential diagnosis of this medically treatable disease is essential for both prenatal counseling and postnatal management. In this case report, we present ultrasonographic findings of a case of congenital chloride diarrhea and discuss the differential diagnosis of this disease.
Alan : Sağlık Bilimleri
Dergi Türü : Ulusal
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