Fw: Strange COD #2 – BETTER LATE THAN NEVER

…..So after I sent out this summary, I got two very wise responses from Brad Piatt and Angela Atinga, both suggesting a mild/delayed onset form of homocystinuria!Based on preliminary Googling, this very well might explain all the findings. 

Brad even sent this helpful article
www.ncbi.nlm.nih.gov/pmc/articles/PMC5786652/

I will have to circle back and find out about possible neurologic issues, dislocated lenses, etc.  As I originally stated, this was a case referred to me from one of my partners, so I’ll have to try to track down the clinician….  More to come (possibly)

—– Forwarded Message —– From: ‘Sonin Andrew’ via OCAD MSK <ocad-msk@googlegroups.com>To: OCAD <ocad-msk@googlegroups.com>Sent: Sunday, April 3, 2022, 08:01:01 AM MDTSubject: Fw: Strange COD #2
Got even fewer responses on this one.No one could tie the skeletal findings (fish vertebrae and multiple infarcts in sternum and ribs) with the aortic root dilation.
“Not sickle cell””Maybe sickle cell””Sickle trait?”mucopolysaccharidosisidiopathic osteoporosis of pregnancy
—– Forwarded Message —– From: ‘Sonin Andrew’ via OCAD MSK <ocad-msk@googlegroups.com>To: OCAD <ocad-msk@googlegroups.com>Sent: Friday, April 1, 2022, 10:02:35 AM MDTSubject: Strange COD #2
yes, I’m fully aware that “OCAD” stands for “One Case a Day” but since I only send less than 1 case a month I figure I’ve built credit.
And no, this isn’t an April Fool’s joke.
This is a 40F with preeclampsia.  Sent to me for consult, as vertebral bodies “look funny”.  Patient has name that sounds Ethiopian or West African descent.
To me these are “fish verebrae” suggesting chronic endplate infarcts, and sclerosis in sternum likewise.  Consider sickle cell, beta-thal, Gaucher disease, etc.But femoral heads are normal, spleen is normal.  no major organ infarcts.
Also has giant aortic root typical of Marfan syndrome but patient doesn’t “look” Marfanoid.  Liver looks big.  
Consider some weird connective tissue disease?  Can anyone tie all this together?
Let the sparring begin….

Andy Sonin

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