Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus.
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.
Pediatric Department and Pediatric Pulmonology Unit, St Vincent Hospital, Nazareth, Israel.
H
H
Shamaly
J
J
Jamalia
H
H
Omari
S
S
Shalev
N
N
Elias
D003550:Cystic Fibrosis / Q000175:diagnosis; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003967:Diarrhea / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D005243:Feces / Q000737:chemistry; D005260:Female; D006801:Humans; D045823:Ileus / Q000175:diagnosis*; D007231:Infant, Newborn; D007234:Infant, Premature; D008470:Meconium; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D018570:Risk Assessment