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Fatigable ptosis and supraduction deficit

  • 1.  Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 09:38

    Dear all,

    I have a 38 year old female with new onset painless left upper lid ptosis and supraduction deficit since June 2025, which she says started over 2-5 days, and has not improved. Exam shows fatigable LUL ptosis, which improves with ice pack, left supraduction deficit and large L hypotropia of > 35 PD.

    Testing with MRI brain/ orbits WWO, myasthenia panel, VGCC antibodies and SF EMG non revealing and almost no response to Mestinon and steroids.

    Given the fatigable nature of her exam, I still have neuromuscular junction disorder at the top of my differential and wanted to know if there would be a role in genetic testing for congenital myasthenia syndromes?
    Are there any further tests you might recommend or would recommend/consider a surgical referral for ptosis/ strabismus consults?


    Would love any inputs. The patient is a business owner and very distressed and unable to work from her symptoms.

    Thank you,

    Shruthi Harish
    Neuro ophthalmology

    Wills Eye Hospital



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  • 2.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 09:43
    Did she start any meds around that time such as a statin?





  • 3.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 10:45
    No new meds started, she is on Dupixent for nasal polyps. 




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  • 4.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 10:22

    A couple of things here

    A large hypotropia will have some amount of pseudoptosis too, which sometimes comes across as variable,  but obviously ice test positivity here indicates a true ptosis

    LPS SR complex involvement suggests a superior third nerve/ localised myopathy more than myaesthenia but again Ice test positivity is quiet specific and the mri is normal though FIESTA may add value

    Why will congenital myaesthenic syndrome show up at 38 years of age , a CPEO may start in this odd way rarely where gradually the other eye may start getting involved.MRI will show the EOM thinning. If possible pls share the MRI images of the orbit/sphaenocavernous area and the third nerve imaging , hope an MRA was also done as a part of the partial third nerve protocol.



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    Shikha
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  • 5.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 10:54
    How long did you keep the patient on steroids and what dose before you decided on no response? It usually takes 2-4 weeks , more likely 4, for steroids to begin to work in ocular myasthenics






  • 6.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 11:27
    I would consider a trial of Mestinon with or without prednisone. I would start low and increase once weekly until it is not tolerated or a beneficial effect is seen.

    Russ Edwards




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  • 7.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:08
    No response to 2-3 months of Mestinon and steroids.

     



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  • 8.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:12
    Bob Daroff used to examine on the neurology boards and would present a patient  like this. He then would ask the candidate what is the likely diagnosis. He  said if the candidate did not say myasthenia they failed.
    Sent from my iPhone



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  • 9.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:12





  • 10.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:16
    What dose of steroids? Some people need 60 mg for 3-6 months




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  • 11.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:46
    Has been on Prednisone 40mg for 2 months now. I can trial a longer steroid course. 
    Thank you!




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  • 12.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:47
    Prednisone was started at 10 and  increased to 40mg, she has body weight of 48kg. 




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  • 13.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:49
    You said "almost no response to mestinon and prednisone." How high did you take the mestinon?

    Russ Edwards




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  • 14.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 12:51
    Mestinon at 90 TID, she is not tolerating higher doses due to GI side effects. 




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  • 15.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 13:08
    How about rechecking the inferior rectus imaging and doing a forced duction to r/o concomitant Graves?



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  • 16.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 13:23
    I wanted to ask a question clinically is ptosis and deviation in a fixed pattern or is it a variable pattern I mean during the day in history and during successive visits 



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  • 17.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 13:24




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  • 18.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 13:28
    Thank you all for your insights!




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  • 19.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 15:46
    Did you check LRP4 antibodies? Also be certain you don't Have a superior division third nerve palsy masquerading as myasthenia. Look again at the Left Cavernous Sinus

    Matt

    Sent via the Samsung Galaxy S21 5G, an AT&T 5G smartphone






  • 20.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 16:03
    ? Sup division 3rd: Subtle SR & LPS atrophy can be difficult to pick on MRI - Sagittal views are sometimes better
    Lionel 




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  • 21.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 16:18
    I'd also carefully review the orbital brain MRIs looking for a schwanoma. I had a patient with a small one who developed a slowly progressive 3np over decades. It was overlooked on several scans by multiple radiologists (and some neuroophthalmologists) and variously misdiagnosed as Graves, myasthenia gravis. 

    Russ Edwards



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  • 22.  RE: Fatigable ptosis and supraduction deficit

    Posted 12-10-2025 18:28
    I am always interested when people on a chat start talking about what kind of imaging should be done in a case. When I was practicing, I would think about which structures or areas might be affected, then talk to a neuroradiologist before the study and say, "I want to track this specific muscle or the entire path of this nerve or this specific anatomical site. They would always get it done and choose whichever study or studies were most appropriate. Sometimes it's not the study as much as the specific imaging machine used. Most radiology departments have several machines of varying sophistication and can pick the appropriate machine and the relevant study. I am assuming, of course, that the neuro-radiologist is experienced and works a high volume of neurologic cases.


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