On follow-up, liver function test was performed every 1 month and abdominal ultrasound every 2 months. The oral medication was well-tolerated by the child without adverse reactions. Two months after diagnosing the infant with CF, his TB, DB, and TBA decreased to normal levels (shown in Table 1), but the infant had a cough for 1 month, and his chest CT scan showed he had sacculus expansion of the lungs. The infant's physical examination revealed an enlarged liver (4 cm below the ribs with soft texture) in a 6-month old. Now, 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).
Using "cystic fibrosis," "* stool," and "infant*" as keywords, we found three relevant articles in PubMed consisting of a total of four case reports with white stool as the first symptom; one was a domestic case report (seen in Table 2). Including this infant, there are a total of five children (three males and two females) 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 (pistachio-green in two patients, pale colored stool one, acholic stool in one, and white stool in one patient), cholestasis in two patients, delayed meconium discharge in one, delayed growth in three, hepatomegaly in three, and splenomegaly in two infants. One child presented with respiratory symptoms at the onset.
Two children had an abnormal sweat test: one had a F508del compound heterozygous mutation and the other child 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.
The female infant (the fourth case) died because of a massive pulmonary hemorrhage. The stool changed to yellow in two infants after oral pancreatic enzymes were administered. The prognosis of the male infant (the third case) was good by UDCA and supporting treatment.