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<p>We report a 59-year-old man with heterozygous HTRA1-related cerebral small vessel disease (hHTRA1-CSVD) presenting with vascular dementia and gait disturbances. Susceptibility-weighted imaging revealed multiple round or ovoid hypointensities around the midbrain, pons, and medulla—termed the “brainstem chocolate chip sign.” This feature may represent leptomeningeal venous abnormalities and may serve as a specific imaging marker for hHTRA1-CSVD.</p>

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Typical “brainstem chocolate chip sign” in heterozygous HTRA1-related cerebral small vessel disease

  • 期刊论文

  • 发表日期：

    2025年7月9日

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  • Yu Guo,
  • Qing Peng,
  • Chen Ling

摘要

We report a 59-year-old man with heterozygous HTRA1-related cerebral small vessel disease (hHTRA1-CSVD) presenting with vascular dementia and gait disturbances. Susceptibility-weighted imaging revealed multiple round or ovoid hypointensities around the midbrain, pons, and medulla—termed the “brainstem chocolate chip sign.” This feature may represent leptomeningeal venous abnormalities and may serve as a specific imaging marker for hHTRA1-CSVD.