A Rare Case of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation on Exon 8 in a Patient Presenting With Recurrent Infections and Failure to Thrive

TL;DR

A rare case of cystic fibrosis is described in a 4-month-old infant with unusual symptoms and a specific gene mutation.

Contribution

Highlights a rare CFTR gene mutation on Exon 8 in a patient with atypical cystic fibrosis symptoms.

Findings

A 4-month-old male infant showed failure to thrive and recurrent infections.

Genetic testing confirmed a harmful CFTR gene mutation on Exon 8.

The case emphasizes the need for genetic testing in atypical CF presentations.

Abstract

Cystic fibrosis (CF) is a genetic disorder that affects various bodily organs, predominantly the pulmonary and gastrointestinal systems. Identifying CF at an early stage can pose a significant challenge, especially when symptoms manifest unusually. The following case study depicts an exceptional and atypical instance of CF in a neonate. A male infant aged 4 months exhibited symptoms such as failure to thrive (FTT), inadequate weight gain, feeding difficulties, slight developmental delay (presence of head lag), and sporadic irritability. The patient experienced an uncomplicated prenatal and postnatal period. Subsequently, the patient suffered from recurring infections and a notable inability to gain weight. Initial tests, encompassing assessments of liver functionality and metabolic processes, yielded inconclusive results. A genetic assessment pinpointed a detrimental cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation on Exon 8, thereby confirming the presence of CF. This analysis underscores the importance of considering CF even in the absence of typical indications. Timely and precise identification through genetic analysis is imperative for effective treatment and enhanced prognoses among individuals with CF.