Don't Forget Your Basics: A Late Diagnosis of Cystic Fibrosis in a Child

Area of Science:

• Pediatrics
• Medical Genetics
• Pulmonology

Background:

• Delayed diagnosis of Cystic Fibrosis (CF) can lead to significant health complications.
• Newborn screening for CF is not always sufficient to detect all cases.

Purpose of the Study:

• To highlight a case of Cystic Fibrosis (CF) in a child with a normal newborn screening.
• To emphasize the importance of clinical suspicion for CF in patients presenting with recurrent respiratory and gastrointestinal symptoms.

Main Methods:

• Case report of a 5-year-old African American boy.
• Clinical presentation including respiratory issues, fevers, rectal prolapse, oily stools, failure to thrive, low weight, speech delay, rash, and finger clubbing.
• Diagnostic workup including laboratory tests, sweat chloride test, and genetic mutation analysis.

Main Results:

• The patient presented with multiple symptoms suggestive of CF despite a normal newborn screening.
• Diagnostic tests confirmed CF, with sweat chloride levels of 92 and 96 mmol/L and DeltaF508/DeltaF508 mutations.
• Initiation of pancreatic enzyme therapy led to improved nutrition and respiratory symptoms.

Conclusions:

• This case underscores the need for a high index of suspicion for Cystic Fibrosis (CF) in children with unexplained recurrent respiratory and gastrointestinal issues.
• Even with normal newborn screening, clinical presentation should guide diagnostic considerations for CF.
• Early diagnosis and treatment, including pancreatic enzyme replacement, are crucial for managing CF and improving patient outcomes.