Download A 57 year old African American male complaining of a progressive

A Case of Progressive Supranuclear Palsy
Lauren Maloney, O.D.
4435 N Greenview #1W
Chicago, IL 60640
[email protected]
Abstract:
Recalcitrant to pharmacologic therapy progressive supranuclear palsy,
first described in 1964 by Steele, Richardson and Olszewski, presents usually in
the seventh decade with parkinsonian-like signs, psuedobulbar signs and
extraocular movement abnormalities.2 Initially mis-diagnosed, before being seen
at the Veterans Administration medical center, as alcohol related this case with
differential diagnosis and video will be discussed.
Key words: progressive supranuclear palsy, ocular manifestations
Case Report:
Patient SJ is a 57-year-old African American male that presented to our
clinic on June 25th, 2007 with complaints of blurred vision OU at all distances and
an inability to move his eyes vertically over the last eighteen months. He also had
reportedly been falling more frequently, which was attributed to his blurred vision.
The patient was being followed for glaucoma at an outside hospital and was seen
there recently. His past social history is pertinent for 30 years of alcohol abuse,
recently discontinued about 6 months prior to his presentation. His past ocular
history is pertinent for open angle glaucoma OU. His past medical history is
pertinent for moderate dementia attributed to his history of alcohol abuse and a
history of a mild CVA confirmed by MRI. His current medications include
Travatan 0.004% ophthalmic solution and Timolol 0.5% ophthalmic solution.
His uncorrected visual acuity was 20/60 OD and OS at distance with a
pinhole acuity of 20/40 OD and OS. He is noted to have significant fluctuations
in acuity during exam. Best-corrected visual acuity is unchanged with a manifest
refraction of pl -0.50 x087 OD and +0.25-1.50x083 OS. He is noted to have
significant difficulty with subjective refraction OU. Pupils were equally round and
reactive without afferent pupillary defect OU. Confrontation fields were full to
finger counting OU. Extraocular movements were intact in horizontal gazes but
he was unable to voluntarily move his eyes vertically. However vertical gaze was
intact by oculocephalic maneuvers. Color vision testing was unreliable. The
patient was noted to have a blank stare secondary to eyelid retraction and
decreased blink rate. Anterior segment evaluation by slit lamp examination
revealed clear eyelids and lashes OU; a quiet palpebral and bulbar conjunctiva
OU; clear cornea OU with an oily tear film OU and a deep and quiet anterior
chamber OU. Intraocular pressures were measured at 18 mmHg OD and 20
mmHg OS by Goldman applanation tonometry. The patient was dilated with one
drop 1% Mydriacil and one drop 2.5% Phenylephrine OU. Dilated fundus exam
subsequently performed by slit lamp examination revealed trace nuclear
sclerosis of the lens OU. Fundus assessment with a 78 diopter lens revealed
pink and distinct optic nerve heads with a cup to disc ratio of 0.6/0.6 OD and
0.8/0.8 OS. Maculae had mild retinal pigment changes OU. The retinal
vasculature and vitreous were within normal limits OU. The peripheral retinal
examination by binocular indirect ophthalmoscopy with a 20 diopter lens was
grossly flat and intact but limited due to patient cooperation. During the course of
the examination the patient was noted to have a right hand tremor and a
hypererect gait as well as an overall rigidity to his movements.
The differential diagnoses considered in this case include:
-Wernicke-Korsakoff Syndrome
-Wernicke-Korsakoff syndrome can present with weakness
or paralysis of the lateral rectus and conjugate gaze,
nystagmus, and a wide based short stepped gait.5
- Parkinson’s syndrome
Parkinson’s syndrome can present with problems with
impairment of upgaze, convergence insufficiency, visual
sensory disturbances and a simian stature.3
- Dorsal midbrain syndrome
Dorsal midbrain syndrome can present with impairment of
upgaze, convergence retraction nystagmus, and light near
dissociation.4
- Progressive supranuclear palsy (PSP)
Progressive supranuclear palsy presents with impairment of
downgaze first then impairment of upgaze, and a hypererect
gait.2
There was no evidence of light near dissociation or convergence retraction
nystagmus. Therefore the patient was diagnosed with oculomotor apraxia,
scheduled an MRI and asked to return for neuroophthalmology conference.
Follow-up #1:
The patient returned on August 1st, 2007 for neuroophthalmology
conference. His visual acuity was reduced to 10/140 OD and 10/160 OS with the
Designs For Vision chart. The patient’s pupils were equal round and reactive to
light without afferent pupillary defect. His extraocular movements were
unchanged. The MRI ordered was not yet completed. At this exam the patient’s
rigidity, gait and tremor were more fully evaluated. Upon questioning of his
spouse he was noted to frequently fall backward while ambulating. Therefore a
diagnosis of progressive supranuclear palsy was made. At this point it was
decided that a referral to neurology was necessary to evaluate if dopamine
agonist therapy to modulate his symptoms was warranted.
Discussion:
Steele, Richardson and Olszewski first described progressive
supranuclear palsy in 1964. It is characterized as a disorder that begins after the
age of 55, usually in the seventh decade with parkinsonian-like signs,
pseudobulbar signs and extraocular movement abnormalities.2 It has an
incidence of 5.3 per 100,000 people but most patients are symptomatic for 3.9
years before the diagnosis is made.7
The pathogenesis of progressive nuclear palsy begins with atrophy of the
midbrain and, to a lesser extent, the pons. This atrophy is characterized by
neuronal loss, gliosis and neurofibrillary tangles that affect the basal ganglia,
diencephalon and brainstem.1 The neuronal and glial inclusions are characterized
by microtubule associated tau protein classifying the disorder as a tauopathy. 3
Contrasted with alzeihemer’s disease, amlyoid deposits and neuritic plaques are
notably absent. 6
The following is a comparision of the signs found in progressive
supranuclear palsy:
Parkinson’s
PSP
DorsalWienickeMidbrain
Korsakoff
Syndrome
Syndrome
Bradykinesia
X
X
Postural Instability X-falls
X-falls
7
forward
backward
Axial Rigidity
X
X
Dysarthria
X
X
Dysphagia
X
Pseudobulbar
X
confabulations8
Affect
Supranuclear
usually
X
upgaze
horizontal gaze
7
4
Gaze Palsy
upgaze only
only
paralysis-not
supranuclear8
Eyelid Retraction
X
X
Apraxia of Eyelid
X
X
Opening/Closing
Square Wave
only in 18%
X
7
Jerks/
of patients
Cogwheel
Pursuits
The parkinsonian-like signs in PSP significantly differ from Parkinson’s
syndrome in the lack of asymmetry in their presentation. Also motor difficulty in
PSP tends to involve the axial musculature; neck muscles are more affected than
trunk muscles.6 Patients will subjectively complain of blurred vision, eye irritation
and photophobia; all likely related to dry eye, secondary to decreased blink rate.
Less commonly patients will complain of diplopia, but unrelated to the motility
problems. This is also likely due to dry eyes.2 Late in the course of the disease
horizontal gaze abnormalities may develop.6
While this disease is a progressive condition, it is typically recalcitrant to
pharmacological intervention. Isolated reports of improvement of symptoms after
treatment with Traxodone, Idazoxan, Methysergide, L-theo-DOPS, and
Amitriptyline have been reported in the literature but have yet to be proven
effective.6 Dopamine agonists may provide limited symptomatic improvement, but
it is the nature of the condition to be fatal 6-10 years after its onset.5 Falls during
the first year, early dysphagia and incontinence are poor prognostic indicators. 6
The causes of death are usually infections and pulmonary complications related
to immobility.6
Conclusion:
Progressive supranuclear palsy is a rare neurologic condition that often
goes undiagnosed and/or misdiagnosed early in the course of the disorder. The
ocular complaints and concomitant oculomotor signs that essentially define this
disorder make it a necessary part of any differential diagnosis of vertical gaze
palsy. The key finding in this disease to complete the diagnosis is the history of
backward falls. While nothing can resolve the extraocular muscle abnormalities, it
is important for clinicians to realize that they can recognize a clinical entity that
may aid patients and their families with the reassurance a diagnosis can bring.
Bibliography
1.Dickson, Dennis W. Rademakers, Rosa Hutton, Michael L. Progressive
supranuclear palsy: pathology and genetics Brain Pathology 2007; 12:74-82.
2.Friedman, Deborah I., Jankovic, Joseph, McCrary, John A. Neuro-ophthalmic
Findings in Progressive Surpanuclear Palsy Journal of Clinical Neuroophthalmology 1992; 12(2): 104-109
3.Hamilton, Steven R. Neuro-ophthalmology of movement disorders Current
Opinion in Ophthalmology 2000; 11: 403-407.
4.Kanski, Jack J. Clinical Ophthalmology 5th ed. Oxford, Buttersworth-Heinemann
Ltd. 2003
5.Martin PR, Singlton CK, Hiller-Sturmhofel S. The role of thiamine deficiency in
alchololic brain disease Alcohol Research & Health : The Journal of the
National Institute on Alcohol Abuse and Alcoholism 2003; 27(2): 134-42.
6.Rehman, H.U. Progressive Supranuclear Palsy Postgraduate Medicine Journal
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7.Pelak, Victoria S. Hall, Deborah A. Neuro-ophthalmic manifestations of
neurodegenerative disease.Ophthalmology Clinics of North America 2004; 17:
311-320.
8.Yoon CK, Chang MH, Lee DC. Wernicke-Korsakoff syndrome associated with
hyperemesis gravidarum Korean Journal of Ophthalomology 2005; 19(3):239242.