Eur J Pediatr Surg 2011; 21(3): 193-194
DOI: 10.1055/s-0031-1271637
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Prenatal Differential Diagnosis of Congenital Chloride Diarrhea: The Importance of a Dilated Fluid-Filled Rectum

N. Usui1 , M. Kamiyama1 , G. Tani1 , M. Fukuzawa1
  • 1Osaka University Graduate School of Medicine, Department of Pediatric Surgery, Suita, Japan
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Publikationsverlauf

Publikationsdatum:
31. Januar 2011 (online)

Introduction

Congenital chloride diarrhea (CCD) is a rare autosomal recessive disorder which results from a dysfunction in electrolyte transport across the brush border of the bowel wall [1] [2]. Prenatal ultrasonographic features of CCD include multiple dilated bowel loops and polyhydramnios [3] [4]. However, these findings frequently lead to a misdiagnosis of bowel obstruction, which is a surgically treatable condition. We describe here the more specific ultrasonographic findings that can be used to correctly diagnose CCD prenatally.

References

  • 1 Holmberg C, Perheentupa J, Launiala K. et al . Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients.  Arch Dis Child. 1977;  52 255-267
  • 2 Norio R, Perheentupa J, Launiala K. et al . Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families.  Clin Gen. 1971;  2 182-192
  • 3 Langer JC, Winthrop AL, Burrows RF. et al . False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea.  J Pediart Surg. 1991;  11 1282-1284
  • 4 Lundkvist K, Ewald U, Lindgren PG. Congenital chloride diarrhoea: a prenatal differential diagnosis of small bowel atresia.  Acta Paediatr. 1996;  85 295-298
  • 5 Romero R, Pilu G, Jeanty P. et al .Prenatal Diagnosis of Congenital Anomalies.. Norwalk, CT: Appleton & Lange; 1988
  • 6 Darrow DC. Congenital alkalosis with diarrhea.  J Pediatr. 1945;  26 519-532
  • 7 Gamble JL, Fahey KR, Appleton J. et al . Congenital alkalosis with diarrhea.  J Pediatr. 1945;  26 509-518
  • 8 Kirkinen P, Jouppila P. Prenatal ultrasonic findings in congenital chloride diarrhoea.  Prenatal Diag. 1984;  4 457-461
  • 9 Badawi MH, Zaki M, Ismail EAR. et al . Congenital chloride diarrhoea in Kuwait: A clinical reappraisal.  1998;  44 296-299
  • 10 Kagalwalla AF. Congenital chloride diarrhea. A study in Arab children.  J Clin Gastroenterol. 1994;  19 36-40
  • 11 Goli C, Zucca S, Cesaretti A. Congenital chloridorrhea: Antenatal ultrasonographic appearance.  J Clin Ultrasound. 1986;  14 293-295
  • 12 Colombani M, Ferry M, Toga C. et al . Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea.  Ultrasound Obstet Gynecol. 2010;  35 560-565
  • 13 Tsukimori K, Nakanami N, Wake N. et al . Prenatal sonographic findings and biochemical assessment for amniotic fluid in a fetus with congenital chloride diarrhea.  J Ultrasound Med. 2007;  26 1805-1807

Correspondence

Dr. Noriaki Usui

Osaka University Graduate School of Medicine

Department of Pediatric Surgery

2–2, Yamadaoka

565–0871 Suita

Japan

Telefon: +81 6 6879 3753

Fax: +81 6 6879 3759

eMail: usui@pedsurg.med.osaka-u.ac.jp

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