Recently, a 1-year-old boy was brought to our practice for a routine checkup. He was a very healthy toddler and had been reaching all his milestones in both growth and development with absolute perfection.
He had a flawless neonatal course, and all his lab work to date - including his newborn screen, complete blood count and lead test - were all within normal limits.
His physical exam was completely normal until I found something ominous on his skin that would alter his life.
On his abdomen, back and legs, we noticed a few small bruises as well as small red dots called petechiae, both of which are signs of bleeding under the skin.
Could it be an infection? Several devastating conditions can cause bleeding under the skin in children. But he did not have an abnormal temperature and looked too healthy.
Then how about abuse? This is always first in the mind of a pediatrician examining a toddler with unexplained bruising.
On further questioning, the mother stated that she didn't know how he got these and was as concerned as we were.
We would not let this child leave our office until we had answers. We performed several studies that included a workup for suspected child abuse. We ordered a body X-ray and head CT scan.
Neither showed evidence of abuse.
Pediatric ophthalmology examined him and they saw no retinal bleeding. These are routine tests that are done in any child younger than 24 months with unexplained injuries or bruising.
Lab studies looking for low platelet counts, which can cause bruising, were normal, as well as blood work checking for infection.
We were still searching.
A few hours later, a test of the prothrombin time (PT) came back that would guide us in the right direction. It would also transfer care of this toddler to a pediatric pulmonologist who will follow him for the next several decades.
His PT was greater than 120 seconds (normal, 10.1 to 13.6 seconds). This meant that this toddler's blood was too thin, and not clotting correctly. Why?
In the 1700s there was a saying, "Woe is the child kissed on the brow who tastes salty, for he is cursed and soon must die."
Two hundred years later, a landmark 1938 article on "Cystic Fibrosis of the Pancreas and its Relation to Celiac Disease" by physician Dorothy Andersen described the characteristic cystic fibrosis of the pancreas and correlated it for the first time, with the lung and intestinal complications that are so well-known today.
It would be decades before treatments and diagnostic testing for cystic fibrosis would be developed, and in the 1950s, the median age of survival of children with cystic fibrosis was only 6 months.
The abnormal gene in cystic fibrosis - cystic fibrosis transmembrane conductance regulator or CFTR - causes thick mucous buildup in many parts of the body along with sodium buildup on the skin, hence the salty "taste." Woe is the child.
Today, thanks to antibiotics, pancreatic vitamin replacements, good nutrition, lung treatments, and even lung transplantation, the life expectancy is almost 40 years. New drugs on the horizon could improve that even more.
We admitted the patient to the hospital for further testing and treatment, looking for diseases that would cause malabsorption of vitamin K, which helps with clotting.
The sweat chloride test, which measures the amount of sodium on the skin, was abnormal, giving us the diagnosis of cystic fibrosis.
Serum levels of fat-soluble vitamins including Vitamins A, D, C, K were all very low due to pancreatic malfunction. After replacement of these vitamins and two injections of vitamin K, the bruising and petechiae slowly dissipated.
A few days later, this bouncy toddler was discharged from our hospital. But management of his disease will bring him back for years to come.