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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Original Message:
Sent: 12-10-2025 09:37
From: Shruthi Harish Bindiganavile
Subject: Fatigable ptosis and supraduction deficit
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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