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Student Case #5


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Did something spread to the CNS? Pressure? Tumor? The first thing that jumped out at me was something pressing on something, and it being secondary to the possible mass? But then if it's neuro...What is in that lower lung area? I'd think the CT would be essential...I keep thinking some sort of primary CA with mets....

 

So appreciate these!

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... I'm not so sure we've found no tumors. Reread the stated CT results and see if you agree that they're pretty narrowly worded to what we were specifically looking for. I don't see any reason this can't be an occult cancer somewhere with mets to the CNS.

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ANCAs negative, ANA negative, RF nl, Lyme Ab negative, RPR negative, ESR 15, copper/cerulopasmin nl, viral work-up included HIV neg

 

... Patient had TLS MRI which was negative for everything except DJD.

 

... PFTs with severely reduced FVC and FEVI (% predicted in the 30s) consistent with restrictive lung disease. Patient unable to inspire/exhale deep enough for DLCO.

 

... EMG with active denervation and chronic reinnervation changes most severe on right but also present on left with preserved SNAP amplitudes consistent with motor neuron disease.

 

... Swallow eval with aspiration on thin liquids

 

Final Diagnosis: Amyotrophic Lateral Sclerosis

Treatment: Prescribed Rilutek (riluzole) and set up with pulmonary as would need tracheostomy in near future

 

This was a sad case, but a good teaching point nonetheless. Average age of onset of ALS is ~65 with slight male predominance. This was a zebra... but again illustrates that history is essential.

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Guest guthriesm

Yay for history - of course I am only saying that because it is the only part I really know (finishing up my first semester in a couple of weeks).

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I'm starting PA school in the fall, but have been reading theses cases. They are great. I realize that there is no definitive test for AlS. So was the diagnosis primarily based on the presence of UMN and LMN deficits? Obviously along with the absence of other neurologic pathologies?

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ALS is a diagnosis based on the progression of upper and lower motor neuron findings. EMG (electromyography) is helpful for confirmation. However, because the disease is so devastating, a thorough work-up of alternative causes should be pursued.

 

Emedicine is a fantastic resource (comparable to UptoDate and FREE). Just google "emedicine" and whichever disease process you are interested in reading about.

 

You can read more about ALS and its diagnosis here: http://emedicine.medscape.com/article/1170097-overview

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