Syringomesencephalia. Report of a case

Area of Science:

• Neurology
• Pathology
• Neuro-ophthalmology

Background:

• Multiple sclerosis is a chronic autoimmune disease affecting the central nervous system.
• Medial longitudinal fasciculus lesions can cause specific ophthalmologic findings.
• Alcoholism is a known cause of cerebellar degeneration.

Observation:

• A woman presented with progressive neurologic deterioration initially suspected to be multiple sclerosis.
• Ophthalmologic examination revealed findings consistent with a unilateral medial longitudinal fasciculus lesion.
• Autopsy was performed to investigate the cause of the neurological decline.

Findings:

• Autopsy revealed a mesencephalic syrinx, a rare developmental malformation.
• Cerebellar atrophy secondary to chronic alcoholism was also identified.
• The pathological findings were not typical of multiple sclerosis.

Implications:

• Syringomesencephalia is an exceptionally rare condition, with only three cases documented.
• This case highlights the importance of considering diverse etiologies for neurological symptoms.
• Understanding rare conditions like syringomesencephalia aids in differential diagnosis and patient management.