MEDizzy - A 64-year-old woman presented to the clinic with a 2- year

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Combined Neurology XII

A 64-year-old woman presented to the clinic with a 2- year history of falling that had progressed over time. She reported she would just suddenly fall, without a trigger. She noticed difficulty going down stairs. On examination, in primary gaze, she had subtle jerk nystagmus. Her neck was hyperextended and she had difficulty flexing it. She had impaired vertical gaze, predominantly on downward gaze. However, on vertical oculocephalic maneuver, downward eye movements were normal. There was mild bilateral rigidity in the upper extremities. On the pull test (examiner pulls the patient backward, instructing the patient to take a step back and prevent falling), she had significant retropulsion and would have fallen if not caught by the examiner. What is the most likely diagnosis in this patient?

ExplanationC. This patient’s history and examination is consistent with progressive supranuclear palsy (PSP) (previously known as Steele– Richardson–Olszewski syndrome), a parkinsonism-plus syndrome. PSP typically has onset in the seventh decade of life, later than idiopathic Parkinson’s disease (PD) and multiple-system atrophy (MSA). The most prominent feature of this disorder is gait and balance problems, with frequent falls. Eye abnormalities in PSP include restricted vertical gaze, predominantly downward gaze, making going down stairs difficult, particularly when combined with the involuntary neck hyperextension (retrocollis) that occurs. The downward gaze restriction can be overcome by the oculocephalic maneuver. Examination often reveals square-wave jerks and impaired optokinetic nystagmus. Other parkinsonian features including bradykinesia, rigidity, micrographia, and gait freezing also occur. MRI of the brain in PSP may show atrophy of the midbrain, leading to the so-called hummingbird sign. Unlike in idiopathic PD, falling in PSP occurs within 1.5 years of symptom onset, whereas in idiopathic PD, it typically occurs years after symptom onset. The prominent vertical gaze abnormalities also help distinguish PSP from idiopathic PD. Also unlike in idiopathic PD, the parkinsonian manifestations in PSP are typically less asymmetric, and response to levodopa is poor. Absence of autonomic features and/or ataxia distinguishes PSP from MSA . In addition, patients with MSA typically have forward neck flexion (antecollis), as opposed to patients with PSP who have retrocollis. PSP is a neurodegenerative disorder, and is a tauopathy, marked by abnormal deposition of the protein tau in various brain regions. In primary autonomic failure parkinsonian features and extraocular movement abnormalities are absent. Corticobasal ganglionic degeneration does not manifest with prominent extraocular movement abnormalities (though eye movement abnormalities can occur) or early frequent falls, and is prominently asymmetric, unlike the case described.