Yoon Ki Park

Antenatal differential diagnosis of congenital chloride diarrhea: A case report

Congenital chloride diarrhea (CCD) is a rare disease characterized by profound, watery diarrhea. It is inherited as an autosomal recessive trait and is caused by a dysfunction of electrolyte transport in the brush border of the ileum. CCD is a medically treatable condition but is frequently misdiagnosed as a surgically treatable condition, such as bowel obstruction, because of similar antenatal ultrasonographic findings. Therefore, a correct diagnosis is of upmost importance before treatment initiation. Although some methods for antenatal differential diagnosis were reported, antenatal diagnosis of CCD remains difficult. Here, we report the case of a patient with CCD, which was presumed antenatally and confirmed postnatally. We also discuss the results of antenatal ultrasonography and amniocentesis and provide some tips regarding ultrasonographic findings for the antenatal differential diagnosis of CCD. Further, we present a brief literature review.

Prenatal ultrasonographic diagnosis of congenital cataract: A case report

선천성 백내장은 소아의 시각 손상의 중요한 원인으로 수정체가 혼탁해진 것이다. 선천성 백내장은 영아에게 적절한 치료시기에 치료를하는 것이 시각기능의 경과에 매우 중요하므로 초기진단이 필요하다. 따라서 산전에 선천성 백내장의 진단은 영아의 치료계획에 도움을 줄 것이다. 이러한 산전 눈 이상의 진단은 산과초음파의 진보로 가능해졌다. 본 저자는 선천성 백내장의 산전초음파로 진단된 1예를 경험하였기에 간단한 문헌고찰과 함께 보고하는 바이다.