Objective: To present a case of atypical presentation of Progressive Supranuclear Palsy (PSP).

Background: PSP is a clinical syndrome characterized by parkinsonism, supranuclear gaze palsy and postural instability. Its clinical presentation is heterogeneous and there are several subtypes, including forms with predominantly oculomotor onset.

Method: Case report from a tertiary medical center.

Results: A 64-year-old male with a 7-year history of slow vertical saccades and eyelid opening apraxia. Two years later, he developed relatively mild symmetrical parkinsonism with predominantly rigid-akinetic phenotype unresponsive to levodopa, without motor fluctuations or dyskinesias. A steady dose of levodopa was maintained for the last 5 years without notorious worsening of parkinsonism. In the last two years, mild postural instability became evident. His family reported behaviour changes without major cognitive impairment. Currently, eyelid apraxia remains the most incapacitating symptom in patient’s life. He remains independent for daily activities.
Current exam shows apraxia of eyelid opening and reduced blink rate. Ocular fixation demonstrates frequent square wave jerks, slow and hypometric vertical saccades and there is partial upward gaze restriction superseded with doll’s eyes maneuver. Mild rigidity and bradykinesia, without resting tremor is present. His gait has mildly narrow base with shortened strides and bilateral decreased arm swing. Chair-raise is possible without assistance. The patient takes 3 steps back on the pull test but recovers unaided.
Brain MRI revealed hummingbird sign, midbrain atrophy with reduced midbrain to pons area ratio and “Mickey mouse” appearance. 123I-Ioflupane SPECT (DaTSCAN) showed marked bilateral putaminal hypometabolism.

Conclusion: While our patient’s symptoms are compatible with the diagnosis of probable PSP, the initial phenotype, neurological examination and clinical course are atypical for the classic presentation of PSP. Onset and predominance of oculomotor dysfunction after a 7-year evolution suggests the presence of a PSP subtype with initial predominance of ocular motor dysfunction (PSP-OM). While being a clear representation of PSP heterogeneity, this case shows that carefully determining the PSP subtype in an individual patient might carry relevant implications for the prognosis.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/atypical-parkinsonism-presenting-with-isolated-gaze-palsy-implications-for-prognosis/