Case #2 (2-6-2004)

[Andrew_Doan]

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CC: 32 y.o. woman examined in oculoplastics for evaluation and repair of LUL ptosis.

HPI: Patient noted progressive ptosis of the LUL for 5 years, which now blocks her vision. She has no other complaints or problems.

POH/PMH: Healthy, no history of eye problems.

EXAM:

Vision 20/20 OU without correction.
Extraocular motility with -2 elevation defect OU.
VF full OD, VF with ~20% superior VF cut OS.
Pupils: 5 mm in the dark, 3 mm in the light, no RAPD, equally reactive
IOP 18 mmHg OU
Anterior segment normal.
DFE normal.

Pt maintains chin up position. There's RUL retraction and marked ptosis OS. Palpebral fissures are 10 mm OD and 5 mm OS with palpebral function of 15 mm OD and 10 mm OS. You also notice a twitching of the LUL when the patient looks up after looking down.


Feel free to discuss the following:

What tests should you order (I'll post labs when asked for them)?

What's the differential diagnosis?

What's the diagnosis?

What is the treatment of choice, surgically and/or medically?

________________________________

 

[Andrew_Doan]

Above image on SDN server:

 

[Visionary]

Andrew-

Is it artifactual or does the patient have a scar above the LUL? If it is a scar, what's the history?

 

[nyeyes]

I'm thinking levator dehiscence vs horners vs pseudoptosis vs myasthenia.

any Hx of trauma, ptosis/miosis/anhydrosis, lung CA, cervical problems. Is her ptosis cong? Is there extra LUL skin to make it a pseudoptosis? any nerve or muscle issues? any Sx's of fatigue or problems chewing/talking?

I would like to find out: any imaging studies done, cocaine to Dx horners, myasthenia workup - edrophonium, Ab's, conduction studies.

 

[Andrew_Doan]

Originally posted by Visionary
Is it artifactual or does the patient have a scar above the LUL? If it is a scar, what's the history?

Originally posted by nyeyes
I'm thinking levator dehiscence vs horners vs pseudoptosis vs myasthenia.

any Hx of trauma, ptosis/miosis/anhydrosis, lung CA, cervical problems. Is her ptosis cong? Is there extra LUL skin to make it a pseudoptosis? any nerve or muscle issues? any Sx's of fatigue or problems chewing/talking?

I would like to find out: any imaging studies done, cocaine to Dx horners, myasthenia workup - edrophonium, Ab's, conduction studies.

Her ptosis started 5 years ago. She has no other symptoms. She has no previous ocular surgeries. The scar above the LUL is a piece of scotch tape and an artifact.

nyeyes, nice differential. If you had to order one test, which one would it be?

 

[nyeyes]

b/c she didnt display the classic Sx's of horners, the 1st test i would prob do would be anti-Ach Ab's to check 4 myasthenia, whcih could present w/ only a ptosis.
also: is she a smoker? & is she complaining of any breathing/lung Sx's?

 

[Andrew_Doan]

Originally posted by nyeyes
b/c she didnt display the classic Sx's of horners, the 1st test i would prob do would be anti-Ach Ab's to check 4 myasthenia, whcih could present w/ only a ptosis.
also: is she a smoker? & is she complaining of any breathing/lung Sx's?

Not a smoker and no breathing/lung symptoms.

 

[Redhawk]

1. Can I assume the VF defect was secondary to the ptosis, or was the test done with tape holding her lid open OS?

2. Her pupils didn't actually constrict in the dark (5mm -> 3mm) did they?

3. Horner syndrome doesn't seem likely because they were equal and reactive and dilated in the dark (assuming that was a typo).

4. The twitching in her left lid: possible fasciculations from a LMN problem vs. Cogan twitch with Mgravis?

5. M gravis - It's seems a little odd to have ptosis of one eye and a retracted lid of the other, unless there is a comorbid condition. Did she have any measureable proptosis OD (or enophthalmos OS), or just lid retraction? Did she have other sx of MG? Did you do a tensilon test or check nAChR antibodies?

 

[eyedocmaggie]

I would definitely want to see an MRI on this one. Could be a growth, or Multiple Sclerosis....
Seems like there is somthing going on with CN III, partial.
I wouldnt suspect MG secondary to the unilateral presentation.
I'm curious as to what her blood glucose is... although unlikely that she would have had somthing happen along a diabetic like, if we are going to r/o it would be a good one to check.
But given the progressive nature, I would lean towards a presentation of MS, or something interfering with CN III

 

[Kalel]

Interesting case. If I only had one test that I could do, I would do the cocaine eye drops in order to differentiate this case between horner's vs some other cause of unilateral ptosis. I know that won't give you a diagnosis though. I'm not certain if that has been elicited from the history, but I'm also not very good at reading your optho mumbo jumbo lingo. 😉 I'm going to take you on your word that she does not have any other systemic symptoms, and the fact that it is unilateral would be consistent with a non-systemic condition which would rule out a lot of conditions, her age essentially rules out a pancoats tumor, and the progressive and prolonged nature of her course and lack of other symptoms would rule out MS in my mind. So, I think that the most likely cause is probably something like some intracranial mass growing slowly and obstructing one side for whatever reason. Maybe lymphoma or pituitary adenoma that is compressing one side only? Of course, it could be some weird mass growing behind her orbit. I suppose that the answer to teh one-test question would be an MRI/MRA (MRA to rule out some weird presentation of carotid dissection too). Anyways, you guys should also visit the IM forum if you want to try an easier case. 🙂

 

[TomOD]

(Assuming the light/dark pupil sizes are a typo).

I'd think MG would be low on my list of differentials. I'd ask her to bring in some old photos to verify the 5 year onset. Gotta differentiate between acquired, neurogenic, myogenic, traumatic, and mechanical.

Any "Jaw-Winking"? Difficulty releasing grip after handshake (Myotonic Dystrophy?). Aponeurotic ptosis? I might consider Parinaud's Syndrome but not too highly.

Forced duction test to see if the left eye can elevate.

I'd say that a progressive onset of unilateral ptosis in a young individual would scream "Neuroimaging" to me.

 

[Andrew_Doan]

1) I apologize, the pupils were 5 mm in the dark and 3 mm in the light. There was no anisocoria. Without anisocoria, a cocaine test for Horner's is not indicated.

2) Old photos confirmed that the ptosis started about 5 years previous.

3) The elevation defect was in both eyes as stated in the case. Forced ductions were negative.

4) MRI scan of the orbits and head were not ordered. There's a test we can do before ordering a MRI scan. Because the symptoms have been present for 5 years, it's not urgent to get a scan. A scan will be needed if the clinical workup is negative.

5) There was no jaw winking or myotonic dystrophy symptoms. There was only twitching of the LUL when looking up after maintaining downgaze.

6) There was no proptosis based on Hertel measurements.

7) We didn't check blood glucose in this case.

8) The VF defect OS was due to the LUL ptosis.

 

[Kalel]

Well, I still don't understand all of your fancy optho lingo, but I will try and add to the differential anyways. I would add Grave's disease even though she doesn't have any hyperthyroid symptoms because that her R eye looks like it's exopthalamos and according to my reading, they can get a contralateral ptosis. Other weird things that I would start adding to the differential would be lyme, or maybe some weird presentation of an autoimmune diseases like SLE. Myasthenia Gravis would also still be on my differential too.

 

[Garp]

Hey Andrew-
Last ophtho rotation was in May, so I'm rusty on my eyespeak. Could you explain a few things just for curiosity's sake?
1) "-2 elevation defect"- how high does this scale go?
2) "DFE normal" - what is this abbrev. again?
3) What are expected normal palpebral fissure values, what is "palpebral function", and what is the normal reference value for that?

Thanks. Just trying to get the language down.

 

[Andrew_Doan]

Originally posted by Garp
Hey Andrew-
Last ophtho rotation was in May, so I'm rusty on my eyespeak. Could you explain a few things just for curiosity's sake?
1) "-2 elevation defect"- how high does this scale go?
2) "DFE normal" - what is this abbrev. again?
3) What are expected normal palpebral fissure values, what is "palpebral function", and what is the normal reference value for that?

Thanks. Just trying to get the language down.

Good questions.

1) The motility defect is usually rated on a scale of 1 to 5 (varies from physician to physician).
1= mild defect
2= mod defect
3= moves eye past midline slightly
4= cannot move eye past midline
5= no movement of eye in direction of gaze.

2) DFE= dilated fundus exam to look at retina and nerve

3) Normal palpebral fissues are about 10 mm. Palpebral function tests the function of the lid, and normal PF is usually 15+ mm. You place thumb firmly on their brow to alleviate accessory muscle involvement and measure the movement of the lid when they look up and down.

 

[guttata]

1. Does the ptosis worsen with repetition? Or worsen at night?
Any hand grip weakness with repetition?

2. Does the ptosis improve with rest (eye closure)?

3. Was the ice-test done?

4. Is she taking any prescription drugs?

5. Is there a family history of autoimmune disorders?

6. Any diplopia?

 

[Andrew_Doan]

1. Does the ptosis worsen with repetition? Or worsen at night?
Any hand grip weakness with repetition?

Ptosis is worse with repetition and worse later in the day. There was no hand grip weakness or signs of skeletal muscle weakness.

2. Does the ptosis improve with rest (eye closure)?

Not significantly.

3. Was the ice-test done?

No... there's a quicker, more definitive test. 😉

4. Is she taking any prescription drugs?

None

5. Is there a family history of autoimmune disorders?

None

6. Any diplopia?

None

 

[Garp]

I'd give her 10mg edrophonium IM and see what happens.

 

[TomOD]

Have pt. squeeze lids shut while you attempt to force them to open.

Cogan?s lid twitch? -having the patient look downward, then upward. If this is present, the eyelid will initially elevate but then settle into a lower, stable position.

Sleep Test? (Improvement after eyes closed for 30 minutes or so).


Ocular myasthenia?

 

[cpw]

was exopthalmometry done?

 

[Kalel]

Did you poke the patient in both eyes to test for corneal reflexes? That's what I would have done. 😉

 

[Andrew_Doan]

Originally posted by cpw
was exopthalmometry done?

Yes... no proptosis.

 

[LASIKguy]

Give me some labs Dr. Doan.

I am interested in TSH,T3/T4,Thyroglobulin.

1. BTW any Hx of orbital decompression in the past or any another ocular surgeries?

2. Was she pregnant when she presented? Did she deliver when the Sx started?

3. Why is she coming after 5 yrs of ptosis? Is it gradually getting worse?

I think it is Graves disease with a defect in levator or its aponeurosis secondary to long term expopthalmus. Good thing is that she doesn't have optic nerve compression.


Interesting case.

 

[jonathan19103]

The LUL flutter sure sounds like a ocular myastenic Cogan's twitch sign. And the OD lid retraction could be compensatory (Hering's law). It would be important to screen for thyroid dysfunction since it can mimic some of these findings and since it is often present at the same time as MG. Diagnostically, you could choose b/w IV edrophonium (2mg followed by another 4mg) or IM neostigmine. Alternatively (or in addition), single fiber EMG of the frontalis may be useful. There are assays for anti ACH-R but I would hold off on these for now. I would also get a CXR considering the frequent presence of a thymoma in myasthenic patients.

 

[TomOD]

Ah, come on Andrew,

You keep us in suspense too long. What's the answer? 😀

 

[Andrew_Doan]

Originally posted by TomOD
Ah, come on Andrew,

You keep us in suspense too long. What's the answer? 😀

I'm letting the cases run about one week before I post the diagnosis.

I'm trying to post the cases once weekly, and I'm also waiting for space on my dept. server for the photos. I just realized that my High Speed Internet account will not be available after I move in 18 months! 😱

 

[Andrew_Doan]

This young woman presented with progressive LUL ptosis, Cogan's lid twitch, and bilateral ophthalmoplegia on upgaze. After careful history taking, she states that her RUL retraction is better and her LUL ptosis is less in the morning. Because of equal innervation of the levator (Hering's law), asymmetric ptosis may cause lid retraction on the opposite side as the patient is attempting to maintain lid opening. With lid retraction, you should think of thyroid disease, but usually we do not see ptosis with Grave's ophthalmopathy (however 5% of myasthenia gravis patients could have underlying Grave's).

Myasthenia gravis, although a systemic disease, may present with only ocular symptoms 50% of the time. Patients often present complaining of binocular diplopia, and the ocular motility deficits may mimic other neurologic disorders, e.g. 6th nerve palsy, 4th nerve palsy, internuclear ophthalmoplegia, etc... The hallmarks signs of myasthenia gravis include: fluctuation & fatigability, diplopia, ophthalmoplegia, ptosis, weakness of jaw, weak neck/trunk/limbs, dysphagia, hoarseness, dysarthria, and dyspnea. Clearly, some of these manifestations may be life threatening.

Because some patients with myasthenia may have an underlying thymoma, a CT scan of the chest should be performed. In this case it was negative.

We performed the Tensilon test (edrophonium chloride) IV. This is a short acting acetylcholinesterase inhibitor.

Photo of lids before Tensilon. Note the RUL retraction and LUL ptosis.

Photo of lids after Tensilon. Note the RUL retraction is less and the LUL ptosis improved.

Photo of lids after treatment with Mestinon (pyridostigmine bromide).

Diagnosis of myasthenia gravis can be confirmed by the presence of anti-Ach receptor antibodies, but a NEGATIVE result does not rule-out myasthenia gravis b/c the panel of antibodies screened is not complete. Also, a NEGATIVE Tensilon test does not rule-out the disease either. If myasthenia gravis is still suspected, then a Prostigmin test (longer acting acetylcholinesterase inhibitor) should be given with atropine (prevent life threatening bradycardia and respiratory depression). The ice or sleep test may also be useful.

Differential Diagnoses

* Myasthenia-like syndrome due to medications
* Chronic progressive external ophthalmoplegia (CPEO) & Kearns-Sayre syndrome
* Eaton-Lambert Syndrome
* Third-Nerve Palsy (must rule-out in young person b/c pupil involved third-nerve palsy in a young person WITHOUT vasculopathic risk factors is a PCOM aneurysm until proven otherwise)
* Horner's syndrome (look for anisocoria).
* Levator dehiscence or disinsertion.
* Thyroid disease
* Myotonic dystrophy
* Congenital fibrosis (b/c of the restriction of eye movements)

 

[Redhawk]

I have a question. Is a chest CT required for all patients with a diagnosis of Mgravis? During my reading I found that most younger patients (<40) tend to have thymic hyperplasia rather than a thymoma. Also, resection of a thymoma usually doesn't help those with pure ocular myasthenia. Just wondering because I didn't come across that info.

 

[Andrew_Doan]

Originally posted by Redhawk
I have a question. Is a chest CT required for all patients with a diagnosis of Mgravis? During my reading I found that most younger patients (<40) tend to have thymic hyperplasia rather than a thymoma. Also, resection of a thymoma usually doesn't help those with pure ocular myasthenia. Just wondering because I didn't come across that info.

We order chest CTs in neuro-op here at Iowa. I think most neuro-ophthalmologists will consider doing a chest CT b/c thymomas are surgically resectable.

I've also been taught that resection of a hyperplastic thymus can help reduce the symptoms of myasthenia gravis.

Resection of a thymoma may not help with pure ocular masthenia, but you wouldn't want a thymoma to remain undiagnosed due to its malignant potential and association with death.

http://www.emedicine.com/med/topic2752.htm

The 15-year survival rate of a person with an invasive thymoma is 12.5%, and it is 47% for a person with a noninvasive thymoma. Death usually occurs from cardiac tamponade or other cardiorespiratory complications.

 

[Redhawk]

Ahhhhh. Good point.😉
Nice link.