[Steele-Richardson-Olszewski-syndrome--a report on 2 cases]

Area of Science:

• Neuroscience
• Ophthalmology
• Neurology

Background:

• Steele-Richardson-Olszewski syndrome (SROS), also known as progressive supranuclear palsy, is a neurodegenerative disorder within the atypical Parkinsonian syndrome family.
• SROS is characterized by a genetic abnormality in intracellular tau protein, leading to neurodegeneration with no current cure.
• Key symptoms include vertical gaze palsy, slowed or absent vertical saccades, and unexplained falls due to postural instability.

Observation:

• Two patients diagnosed with SROS underwent neuro-ophthalmological and strabismological examinations.
• Patient 1 (64M) exhibited limited upgaze, inability to perform saccades, and Parkinsonian features like rigidity and slowed movements.
• Patient 2 (67F) presented with limited upgaze, slowed saccades, and reported falls and articulation difficulties.

Findings:

• Clinical findings in both patients strongly suggested probable SROS.
• Definitive diagnosis requires histological confirmation of neurofibrillary degeneration in specific brain regions.
• Observed symptoms included vertical gaze limitations, saccadic dysfunction, and postural instability.

Implications:

• SROS may be frequently misdiagnosed as Parkinson's disease or other atypical Parkinsonian syndromes.
• The true prevalence of SROS is likely underestimated due to diagnostic challenges.
• Accurate diagnosis of SROS is essential for appropriate patient management and research.