EC Pulmonology and Respiratory Medicine

Background: The coexistence of CF and BA in a neonate is exceedingly rare, adding complexity to both diagnosis and management.

Objective: This is the first case report of CF and BA in a neonate in the Middle East with Novel BA mutation and literature review.

Case Presentation: A four-week-old Saudi male neonate was referred for evaluation of cholestasis, suspected BA due to clinical signs and family history. The initial workup revealed elevated liver function tests and characteristic imaging findings consistent with BA, confirmed by liver biopsy and cholangiogram. The patient underwent a successful Kasai procedure. In light of the history of recurrent cough and loose bowel movements, the Whole-exome sequencing was dose which identified a pathogenic homozygous CFTR mutation (c.2988+1G>A), confirming CF, alongside VUS in the LARS1 and RINT1 genes, associated with infantile liver failure syndromes. He was started on supportive therapies for CF, and showed marked improvement on symptoms and growth. The VUS findings necessitate long-term monitoring due to their potential impact on liver function.

Conclusion: This case underscores the diagnostic and therapeutic challenges posed by the rare co-occurrence of CF and BA in a neonate, which is further complicated by additional genetic findings.

 Keywords: Biliary Atresia; Cystic Fibrosis; Neonate; Cholestasis; Whole-Exome Sequencing; Genetic Variants; LARS1; RINT1; Kasai Procedure

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