Hi everyone!! I hope your week went well! Before I get into what I did this week here’s a gif of a puppy that I thought I would share.
This week I went about my weekly shadowing of Dr. Narayanan on Mondays and Fridays. I saw a whole bunch of cases this week that were all so different and interesting. One of the more interesting ones was a 2 year old girl who suffered from Russell Silver Syndrome. Russell Silver syndrome is a growth disorder where children present with low muscle tone (which causes hypoglycemia), low birth weight, development at a much slower rate, but their head growth remains normal so it looks like they have a really big head. Along with having Russell Silvers syndrome, this little girl also has Temple Syndrome. Temple syndrome is caused by abnormalities on chromosome 14. Typically, each normal child inherits one chromosome from their mom, and one from their dad, but this patient inherited both from her mom on chromosome 14, which is called uniparental disomy. Patients with Temple syndrome often hit puberty much earlier on, and are also more inclined to obesity.
So, last week I got some of the patient notes for the patient I will be following. Dr. Narayanan and I were talking about the case and he explained to me how patient history is super important in deciding whether or not a patient is a viable candidate for sequencing. So, I thought I would share a little bit of that with you.
This patient had a normal birth and regular neonatal examination but when he was around 5 years old his kindergarten teachers had some concerns. After further testing, he presented with cerebellar ataxia, hyperreflexia, dysarthria, some cognitive delays, and convulsive epilepsy.c The main concern was with determining what was causing his ataxia. Cerebellar ataxia occurs when the cerebellum is damaged which causes issues with controlling muscle coordination. At first they believed the cause of the cerebellar ataxia was because of spinocerebellar degeneration. They ran tests for that which all came out negative. Because of the negative test results, Dr. Narayanan thought they should be enrolled into genomic studies for further testing.
Well, I guess that’s all I’ve got for you guys this week! And, since I started this blog post off with a cute dog gif, I guess I should finish the post that way too!
Hi Anjalee! It's really interesting that inheriting both chromosomes from the mother results in a disorder. I would have thought that it would just count as a normal (while unusual) situation. Have there been any changes to your research question?
ReplyDeleteHi Stirling! No changes to my question :) Thanks for reading!
DeleteHey Anjalee! Your post is really interesting. With regards to your patient, were they able to determine the cause of the hyperreflexia, dysarthia, and the other cognitive delays or is that determined with the further genetic studies as well? Again interesting post and can't wait to read more!
ReplyDeleteHi Anjalee! As per usual, your blog and your posts are very intriguing. It was kind of sad, but also interesting reading about the two year old patient. How will family exome sequencing help with these rare disorders?
ReplyDeleteHi Gokul! Exome sequencing provides an answer for the families regarding their childs genetic mutation. It just helps them know what is happening. Thanks for reading!
DeleteHi Anjalee! This is really interesting! Do you know what causes Russell Silver Syndrome? And is it genetically related to Temple Syndrome or is it just a coincidence that this patient has both?
ReplyDeletehello! that all sounds really interesting that you were able to experience and learn more about the rare childhood diseases and how they affect the children. I have no further questions for now because you are able to expand on the reasons of the diseases. Please keep us updated about the causes for the diseases of the young boy after the further testing. thanks and good luck!
ReplyDeleteAnother awesome research and gifs! I have one question about the 5 years old boy. Why were the doctors most concerned with the cause of ataxia out of all the other complications he had? Thanks!
ReplyDeleteHey Anjalee! I'm interested in what you can find about a standard patient's viability for sequencing! How does Temple syndrome affect a patient's mental thoughts. Are they inclined to think more like a female?
ReplyDeleteHi Anjalee! Once again, your post is excellent! With all of the very different experiences you have had with a wide variety of patients, do you have one that has interested you the most? Thanks for keeping us updated!
ReplyDelete