[A case of periodic ataxia]

Area of Science:

• Neurology
• Neuroscience
• Medical Case Reports

Background:

• Periodic ataxia is a rare neurological disorder characterized by recurrent episodes of ataxia and vertigo.
• Sporadic cases require thorough investigation to rule out other potential causes like vascular, congenital, infectious, or demyelinating diseases.

Observation:

• A 62-year-old male presented with a history of nystagmus since age 18 and recurrent vertigo and ataxia since age 48.
• Attacks included downbeat nystagmus, lower extremity predominant limb ataxia, and ataxic gait.
• Persistent symptoms between attacks included vertical nystagmus, glove-and-stocking dysesthesia, and deep sensory deficits.

Findings:

• Magnetic Resonance Imaging (MRI) revealed atrophy in the anterosuperior region of the cerebellar vermis.
• The clinical presentation and MRI findings were inconsistent with vascular, congenital, tumor, infectious, or demyelinating etiologies.
• The case was diagnosed as periodic ataxia, potentially belonging to the vestibulocerebellar ataxia subtype.

Implications:

• This case underscores the diagnostic challenges of periodic ataxia, especially in sporadic presentations.
• Identifying vestibulocerebellar ataxia is crucial for appropriate patient management and understanding the spectrum of cerebellar disorders.
• Further research into the pathophysiology and genetic underpinnings of sporadic periodic ataxia is warranted.