This CT scan was ordered for a 35 year old male with chronic diarrhea after a normal colonoscopy.  The patient also has a history of a chronic lung condition.

What genetic condition does this patient have and what is the name of the CT finding seen in A and B? (C is normal for comparison).

This patient has cystic fibrosis and associated pancreatic insufficiency causing chronic diarrhea.  This CT scan demonstrates fatty replacement of the pancreas (lipomatosis), which is a common problem associated with cystic fibrosis. A typical example of what that looks like shown here. The normal dense pancreatic parenchyma has been completely replaced by low density fat, outlined in yellow on coronal CT image (a) and transverse CT (b). A normal pancreas is shown in image (c) for comparison, outlined in red.  The pancreas is also much larger than normal.

October is a month dedicated to the achievements of women in medicine and this weeks image challenge is all about Dr. Dorothy Andersen.  Dr Andersen was a pediatrician and pathologist who not only discovered cystic fibrosis, but spent her life researching it and contributing to the field.   Interestingly, the first case of cystic fibrosis was noted by Dr. Andersen in a young patient who had died from celiac disease. On the autopsy, Dr. Andersen noted distinct pancreatic findings of fat deposition and then she looked at the lungs and noted thick mucous and multiple infections.  She studied this combination and called they associated syndrome Cystic Fibrosis.  She went on to further characterize this condition making extraordinary research progress in the genetics of cystic fibrosis and developed the first genetic test for the condition, which is still being used today.

Despite her accomplishments, Dr. Andersen had to overcome significant discrimination in order to practice medicine. She studied at Johns Hopkins University and graduated in 1926. At this time, women were still not allowed into many medical schools (it would be over 20 years before Harvard accepted female medical students).  She was denied a residency in surgery, her first passion, because of her gender. Lucky for us, she accepted a joint position as a pediatrician and pathologist and we have her to thank for this important discovery.

To learn more about Dr. Andersen,read about her in the women’s hall of fame or changing the face of medicine feature.