Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants

Jing Guo,Zhi-Qin Mao,Rong He

doi:10.3389/fped.2021.656584

Abstract

A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA). An abdominal doppler ultrasound showed no signs of biliary atresia. Genetic testing revealed a CFTR hemizygous mutation site (c.223C>T) in exon 3 and exon 2–3 heterozygous deletion mutation. The infant's stool turned yellow after oral administration of pancreatic tablets. Finally, the infant was diagnosed with cystic fibrosis (CF). Review of literature revealed five children (including the infant in this case study) with CF who presented with white stool. All five children had anemia, four had edema and hypoproteinemia, five had changes in stool color (it was pistachio-green color in two patients, pale colored in one, acholic stool in one, and white stool in one), two had cholestasis, one infant had delayed meconium discharge, and three children had delayed growth and hepatomegaly. Two children had an abnormal sweat test, one had a F508del compound heterozygous mutation, and one had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation. So, CF could be included in the differential diagnosis of infants with white stool. Genetic testing could confirm an early diagnosis of CF. Pancreatic replacement therapy has been shown to be beneficial for improving the digestive function.

Highlights

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane transport regulator gene (CFTR) [1], which leads to a decrease in the secretion of chloride ions and water in epithelial cells, resulting in recurrent respiratory infections, exocrine pancreatic insufficiency, cholestasis, renal hypoplasia, and male congenital absence of vas deferens [2]
There are a total of five children with an average age of 2 months that have presented with white stools and diagnosed with CF
Anemia was present in all five children, edema and hypoproteinemia in four, changes in stool color in five, cholestasis in two patients, delayed meconium discharge in one, delayed growth in three, hepatomegaly in three, and splenomegaly in two infants

Summary

INTRODUCTION

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane transport regulator gene (CFTR) [1], which leads to a decrease in the secretion of chloride ions and water in epithelial cells, resulting in recurrent respiratory infections, exocrine pancreatic insufficiency, cholestasis, renal hypoplasia, and male congenital absence of vas deferens [2]. The infant’s physical examination revealed an enlarged liver (4 cm below the ribs with soft texture) in a 6-month old. He is 1 year old with yellow soft stools, his body weight is 8500 g (3rd percentile), his height is 72 cm (3rd percentile). He has not had a cough for nearly 4 months, but still has an enlarged liver (2 cm below the ribs with soft texture). The prognosis of the male infant (the third case) was good by UDCA and supporting treatment

Literature Review

Findings

ETHICS STATEMENT