Rare Intestinal Manifestation Leads to Cystic Fibrosis Diagnosis in a Child in Individual Case Report

A study led by researchers at West Virginia University presented a case report of a child who was diagnosed with cystic fibrosis (CF) based on an intussusception manifestation. The study was recently published in the Journal of Pediatric Surgery Case Reports and is entitled “Cystic fibrosis diagnosed via presentation of intussusception in childhood.”

CF is a life-threatening genetic disease in which a defective gene causes the body to form unusually thick, sticky mucus that is difficult to cough up and can result in serious respiratory and gastrointestinal manifestations. Among these, a rare medical condition named intussusception is known to have a higher prevalence in children with CF (1–2% develop intussusception in their lifetime).

Intussusception happens when a part of the intestine folds into another section of the intestine, a movement resembling how the pieces of a collapsible telescope slide. This medical condition often results in a serious obstruction of the intestine, forcing it to swell and possibly bleed or tear. Intussusception is estimated to occur in 1 to 4 out of every 1,000 infants, being more common among babies 5 to 9 months old, although older children can also experience it.

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Cases where intussusception led to CF diagnosis are very rare. In this study, researchers describe one of these cases of an 8-year-old boy who, although without having been diagnosed with CF,  already had a long history of both pulmonary and gastrointestinal conditions. Thanks to a computed topography (CT) scan, an ileum intussusception was found in the boy. Based on these results and on his notable history of gastrointestinal and pulmonary manifestations, the boy was submitted to DNA and sweat chloride testing for cystic fibrosis. The tests confirmed the cystic fibrosis diagnosis and adequate treatment was provided. No intussusception recurrence was reported.

Statewide screening programs have been created to provide an early diagnosis of cystic fibrosis, but the boy was born before routine newborn testing was mandatory.

The team concluded that CF may not be detected at birth and only clinically manifests in older children by idiopathic intussusception. Although it is a rare situation, physicians should be aware of this possibility. Researchers believe that standard CT scan imaging is an important tool to diagnose CF in cases where patients have acute abdominal pain.