Hi everyone! I hope that everyone had a wonderful, and well-deserved spring break!
So this week, I was back on site and the week went a little slower at the office. A lot of the cases I saw were routine check ups on kids who had been suffering through epilepsy and needed either prescription refills or were just back for their 6-month check up.
But, don’t worry, I do have an interesting case to share with you guys. On Monday, I saw a patient who is two and a half years old and has been diagnosed with Congenital Arthrogryposis. Congenital Arthrogryposis is a neuromuscular disease which is characterized by contractures which happen at birth. A contracture is when muscles tighten and harder which causes issues with your joints. This is normally caused by a lack of movement in utero and a greater amount of connective tissue around the joints, which also limits movement. The affected limbs are typically underdeveloped and feel soft. At birth, this baby was born with her feet at her head and her joints were essentially frozen in place. The baby is in physical therapy to help ease and allow for some movement, but most movement is very painful and the range of motion is incredibly limited.
As far as the patient I am focusing on - the boy with myoclonus and ataxia - Dr. Narayanan and I have not yet discussed the data that they received from the exome sequencing. He had to go to California for a meeting today, so I was not able to go on site.
However, he will be back on Monday and we will hopefully discuss the results this coming week! But, so far on my research with this patient, I have seen how Dr. Narayanan has isolated his main concerns about the patient and why he thought exome sequencing would be a good idea. There are a few factors that make children poor candidates for sequencing which are being born very early and having a condition like bacterial meningitis or cerebral palsy. Because this patient did not present with those issues and his test for spinocerebellar ataxia came out negative, exome sequencing seemed like the next step in finding a diagnosis.
Well, I guess that’s all I’ve got for you guys this week! But, here’s an adorable gif that everyone should see. See you next week!
