Case 1

DOOUBLE VISION
Manastireanu Denisa-Alexandra
CASE 1
• History
• A 43-year-old woman presents to her general practitioner (GP) complaining of
diplopia, more marked in the evenings, for the last 3 months. She has noticed
difficulty holding her head up, again especially in the evenings. She has problems
finishing a meal because of difficulty chewing. Her husband and friends have
noticed that her voice has become quieter. She has lost about 3 kg in weight in the
past 6 months. The woman has had no significant previous medical illnesses. She
lives with her husband and three children. She is a non-smoker and drinks about
15 units of alcohol per week. She is taking no regular medication.
• Examination
• She looks well, and examination of the cardiovascular, respiratory and abdominal
systems is normal. Power in all muscle groups is grossly normal but seems to
decrease after testing a movement repetitively. Tone, coordination, reflexes and
sensation are normal. Bilateral ptosis is present and is exacerbated by prolonged
upward gaze. Pupillary reflexes, eye movements and funduscopy are normal.
• Questions
1. What is the diagnosis?
2. What are the major differential diagnoses?
3. How would you investigate and manage this
patient?
1. What is the diagnosis?
• This woman’s generalized weakness is due to myasthenia gravis.

• Myasthenia gravis (MG) is a rare acquired autoimmune disorder of the
neuromuscular junction (NMJ), caused by antibodies that target the post-synaptic
membrane.
• Also, thymic abnormalities are clearly associated with myasthenia gravis but the
nature of the association is uncertain. 10% of patients with myasthenia gravis have
a thymic tumor and 70% have hyperplastic changes (germinal centers) that
indicate an active immune response.
Clinical presentation
• Patients with MG typically present with fatigable muscle weakness.

• It characteristically affects the external ocular, bulbar, neck and shoulder girdle
muscles. Weakness is worse after repetitive movements which cause acetylcholine
depletion from the presynaptic terminals.
The onset is usually gradual.
Ptosis of the upperlids is often associated with

diplopia due to weakness of the external ocular
muscles.
Speech may become soft when the patient is

tired.
Symptoms are usually worse in the evenings

and better in the mornings.
Permanent paralysis eventually develops in

some muscle groups.
In severe cases respiratory weakness occurs.

What are the major differential diagnoses?
1. Motor neurone disease: suggested clinically by muscle fasciculation and later
bymarked muscle weakness.
2. Muscular dystrophies: selective muscular weakness occurs in specific diseases,

e.g.facioscapulohumeral dystrophy. There is usually a family history.
3. Dystrophia myotonica: this causes ptosis, wasting of the
masseter, temporal and sternomastoid muscles and distal
muscular atrophy. There is a characteristic facial
appearance with frontal baldness, expressionless facies and
sunken cheeks. There may be gonadal atrophy and mental
retardation. There is usually a family history.The
electromyogram (EMG) is diagnostic.
4. Polymyositis: this may have an acute or chronic onset. A

skin rash and joint pains are common. The creatine kinase
level is raised and a muscle biopsy is diagnostic.
3. Miscellaneous myopathies: thyrotoxic, hypothyroid, Cushing’s, alcoholic.
4. Non-metastatic associations of malignancy: thymoma is associated with

myastheniagravis in 10 per cent of cases; the Eaton–Lambert myasthenic
syndrome is associated with small-cell lung carcinoma.
Investigations and management
• In this case, my opinion is that the patient must be investigated by a neurologist to confirm
the dignosis of MG.
DIAGNOSTIC PROCEDURES includes

 Serum Antibodies- blood should be assayed for acetylcholine receptor antibodies (present in
90 per cent)
 The Edrophonium Chloride (Tensilon®) Test- intravenous injection of edrophonium (Tensilon)
will increase muscular power for a few minutes.
 Ice-pack Test: When edrophonium testing is contraindicated, an ice-pack test can be
performed. This test requires an ice-pack placed over the eye for 2-5 minutes. Then, an
assessment for any improvement in ptosis is done.
 Electromyography (EMG) will demonstrate fatiguability in response to repetitive
supramaximal stimulation.
 A computer tomography (CT) of the thorax should be performed to detect the presence of a
thymoma or lung cancer.
Treatment
• The mainstay of treatment in MG involves cholinesterase enzyme inhibitors and
immunosuppressive agents. Symptoms that are resistant to primary treatment
modalities or those requiring rapid resolution of symptoms (myasthenic crisis),
plasmapheresis or intravenous immunoglobulins can be used.
• 1. Acetylcholinesterase inhibitors increases the level of ACh at the NMJ by

preventing its enzymatic degradation. Pyridostigmine bromide is preferred over
neostigmine because of its longer duration of action.
• 2. Immunosuppressive Treatment: these are indicated in patients who remain

symptomatic even after pyridostigmine treatment. Glucocorticoids (prednisone,
prednisolone, and methylprednisolone) and azathioprine are the first-line
immunosuppressive agents used in the treatment of MG. Second-line agents
include cyclosporine, methotrexate, mycophenolate, cyclophosphamide, and
tacrolimus.
• 3. Intravenous immunoglobulins (IVIG) / Plasmapheresis: This is recommended
during the perioperative period to stabilize a patient before a procedure.
• 4. Thymectomy- in case there is evidence of thmoma.

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DOOUBLE VISION

• This woman’s generalized weakness is due to myasthenia gravis.

• Patients with MG typically present with fatigable muscle weakness.

Ptosis of the upperlids is often associated with

Speech may become soft when the patient is

Symptoms are usually worse in the evenings

Permanent paralysis eventually develops in

In severe cases respiratory weakness occurs.

2. Muscular dystrophies: selective muscular weakness occurs in specific diseases,

4. Polymyositis: this may have an acute or chronic onset. A

4. Non-metastatic associations of malignancy: thymoma is associated with

DIAGNOSTIC PROCEDURES includes

• 1. Acetylcholinesterase inhibitors increases the level of ACh at the NMJ by

• 2. Immunosuppressive Treatment: these are indicated in patients who remain

• 4. Thymectomy- in case there is evidence of thmoma.

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