[Ross syndrome presenting with asymptomatic tonic pupils]

Area of Science:

• Neurology
• Autonomic Neuroscience

Background:

• Ross syndrome is a rare disorder characterized by the triad of tonic pupils, areflexia, and episodic sweating.
• Understanding the full extent of autonomic nervous system involvement in Ross syndrome is crucial for diagnosis and management.

Observation:

• A 66-year-old woman presented with asymptomatic tonic pupils and areflexia, alongside a history of heat intolerance and decreased sweating.
• Pharmacological testing revealed abnormal pupillary responses to pilocarpine and acetylcholine, and decreased sweating in specific areas.
• Electrogastrogram showed reduced muscle contraction frequency and increased bradygastria, indicating gastric motility dysfunction.
• Skin biopsy revealed atrophy of pilosebaceous and sweat glands.

Findings:

• The patient was diagnosed with Ross syndrome, demonstrating significant autonomic dysfunction beyond the typical triad.
• Autonomic testing indicated impaired sudomotor, pupillomotor, and gastrointestinal functions.
• Skin biopsy confirmed pilosebaceous and sweat gland atrophy, suggesting peripheral autonomic damage.

Implications:

• This case underscores that Ross syndrome can involve extensive autonomic nervous system dysfunction, affecting multiple organ systems.
• The lack of improvement with intravenous immunoglobulin suggests that current treatments may not address the underlying pathology of autonomic damage in Ross syndrome.
• Further research into the pathogenesis and potential therapeutic targets for Ross syndrome is warranted.