Strange Babies all around

Today I finished early and had some time to kill before an evening lecture. So I went over to the hospital where the lecture was going to be. I was excited about the lecture because the doctor giving the lecture is a renown pediatrician. As I was waiting and studying (I had about 3 hours) for the lecture I ran into the doctor who was going to give the lecture and he asked me if I wanted to come and work with him. "Of course!" I said. 

He took me to the nicu to look at 3 very interesting cases. He made me work through the diagnosis on my own and I was able to figure out the cases. The first case was a 2 day old baby born with microopthalmia which is a condition where one eye does not develop correctly and remains very small and nonfunctioning. The baby will be blind in that eye. As I was examining the 2nd baby I noticed that the heart sounds were much more profound on the right side of the chest and I was able to determine the baby had dextrocardia. Dextrocardia is a condition where the heart is on the right side instead of the left side. After reviewing an Xray of the baby I was able to further realize that the baby had Dextrocardia Situs Inversus Totalis which is when all the organs are on the opposite of their normal location. It is a direct mirror image. This syndrome occurs when there is a defect in the cilia that are responsible for moving the organs as they develop. I included an xray of a patient with dextrocardia situs inversus totalis. 

Finally the 3rd case was a baby with Harlequin type ichthyosis which is a disease where the skin is too thick and contains massive scales. The baby literally has thickened scales. The skin is thick and causes toes, limbs etc to infarct by cutting of the blood supply to the areas. The skin is defective and lacks its normal protective barrier qualities so these babies to not due too well and usually die of infection. The prognosis is grim. There are some isolated cases where a harlequin babies have survived into adulthood. This particular baby's parents left the hospital never to return upon seeing their deformed baby.  It is a sad case. The baby is about 1 month old and struggling to survive. I included a picture of this disease as well.

It was a great day and I was able to see some fairly rare cases and work for several hours with one of the major experts in the field of pediatrics.