Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus

Abstract

Postpartum abdominal distention and meconium ileus may occur due to intestinal obstruction, Hirschprung disease or cystic fibrosis. However, other rare and challenging etiologies such as congenital chloride diarrhea (CCD) should be included in differential diagnosis of such presentation. We present a premature baby girl who had distended abdomen and lack of meconium immediately after birth. Surgical etiology was excluded and she was mistakenly suspected of having cystic fibrosis due to meconium ileus. CCD was diagnosed by recognition of watery diarrhea in association with hyponatremic, hypochloremic metabolic acidosis. Mutation analysis confirmed the diagnosis.

Nonobstructive Diffuse Dilated Bowel Loops: Prenatal Diagnosis, Fetal Characteristics and Neonatal Outcomes

“…Nonobstructive bowel dilatation is a rare entity and may be the result of intrauterine fetal compromise, congenital chloride diarrhea, Hirschsprung disease, congenital pseudoobstruction, and microvillous inclusion disease. Prenatal diagnosis is difficult and may consist of diffuse dilated bowel loops, polyhydramnios, and echogenic bowel . Microvillous inclusion disease is a fatal congenital disorder of the intestine.…”

“…Prenatal diagnosis is difficult and may consist of diffuse dilated bowel loops, polyhydramnios, and echogenic bowel. [3][4][5][6][7][8][11][12][13][14][15][16] Microvillous inclusion disease is a fatal congenital disorder of the intestine. Due to partial or total atrophy of microvilli on enterocytes, neonates have protracted watery diarrhea in the first few days of life.…”

“…Most of the data in the literature refer to obstructive bowel disease, which includes congenital intestinal atresia, volvulus and malrotation, cystic fibrosis, and meconium ileus. Scarce data exist in the literature on nonobstructive bowel dilatation, and only a few cases have been reported on congenital chloride diarrhea, congenital pseudoobstruction, fetal compromise, and Hirschsprung disease …”

“…Scarce data exist in the literature on nonobstructive bowel dilatation, and only a few cases have been reported on congenital chloride diarrhea, congenital pseudoobstruction, fetal compromise, and Hirschsprung disease. [3][4][5][6][7][8] During the past decade, many cases of fetal bowel loop dilatation, observed by prenatal sonography, were referred to the Chaim Sheba Medical Center for prenatal evaluations, which included genetic counseling and fetal observation. While observing and following these cases, we identified a unique sonographic pattern in which the bowel was diffusely dilated.…”

HCO3− secretion by SLC26A3 and mucosal defence in the colon

“…Although the major gastrointestinal symptoms of CF and CLD are at opposite ends (ileus and diarrhoea), there is a case report of CLD patient presenting meconium ileus (Shamaly et al . ). In addition, there are some similarities between CF and CLD.…”