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Acute Stroke in Middle Cerebellar Peduncle in a Patient With FXTAS

Deborah A Hall1, Avram Fraint1, Rima Dafer1

  • 1Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, United States.

Frontiers in Genetics
|June 12, 2018
PubMed

Insights

Fragile-X associated tremor/ataxia syndrome (FXTAS) can present with middle cerebellar peduncle (MCP) stroke. This rare event may be linked to FXTAS neurodegeneration, vertebral artery disease, and neck manipulation.

Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Fragile-X associated tremor/ataxia syndrome (FXTAS) typically shows T2 hyperintensity in the middle cerebellar peduncles (MCP) on MRI.
  • Ischemic stroke in the MCP in FXTAS patients is not well-documented.

Purpose of the Study:

  • To report a case of ischemic stroke in the MCP in a patient with FXTAS.
  • To explore potential contributing factors to this rare presentation.

Main Methods:

  • Case report of a 61-year-old male with FXTAS, hypertension, and other comorbidities.
  • Clinical examination, MRI, and vascular workup were performed.
  • Analysis of potential triggers including chiropractic neck manipulation.

Main Results:

  • The patient presented with new nystagmus and worsening dysmetria.
  • An acute infarct was identified in the left MCP.
  • Associated findings included vertebral artery stenosis, uncontrolled hypertension, and hyperlipidemia.

Conclusions:

  • Isolated MCP infarcts are uncommon, often linked to hypoperfusion from vertebral artery disease and neck manipulation.
  • The authors hypothesize that FXTAS-related neurodegeneration, combined with small vessel disease and neck manipulation, may have led to the MCP infarct.
Keywords:
FXSFXTASFragile XMCPmiddle cerebellar pedunclestroke

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