Atrophic-appearing pancreas on magnetic resonance cholangiopancreatography as initial presentation of cystic fibrosis.
Cystic fibrosis is an autosomal recessive disease typically diagnosed in early childhood secondary to pulmonary manifestations. We present the unusual case of a 20-year-old man being diagnosed with cystic fibrosis after he was incidentally noted to have an atrophic pancreas on magnetic resonance cholangiopancreatography. He had no sign of chronic pancreatitis or symptoms of exocrine pancreatic insufficiency. As pancreatic atrophy is rare in young adults, the patient was evaluated for cystic fibrosis by genetic testing and the patient was noted to have the deltaF508 and p.R347L mutations of the cystic fibrosis transmembrane receptor. The patient was counseled on the implications of these findings for his potential children, but no treatment was undertaken at this time.
Department of Internal Medicine, Tripler Army Medical Center, Honolulu, HI 96819, USA. Amy.Stratton@us.army.mil
Amy
A
Stratton
Thomas
T
Murphy
Jeffrey
J
Laczek
D049448:Cholangiopancreatography, Magnetic Resonance / Q000379:methods*; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation; D010179:Pancreas / Q000473:pathology*; D055815:Young Adult
C093349:cystic fibrosis transmembrane conductance regulator delta F508; D019005:Cystic Fibrosis Transmembrane Conductance Regulator