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Objective <p>Primary oculoleptomeningeal amyloidosis (OLMA) is a rare hereditary transthyretin (TTR) amyloidosis (ATTRv) associated with specific <i>TTR</i> variants. p.Arg54Gly is characterized by an ocular phenotype with vitreous opacities and chronic open-angle glaucoma.</p> Methods <p>We report for the first time the occurrence of subarachnoid hemorrhages, seizures, cardiac and skin amyloid deposits in a patient with OLMA carrying the <i>TTR</i> p.Arg54Gly variant.</p> Results <p>A 40-year-old man with a history of visual loss presented with altered mental status, right hemiplegia, and global aphasia, followed by a gradual recovery over 5 days. Brain MRI with gadolinium showed diffuse leptomeningeal enhancement and small convexity subarachnoid hemorrhagic foci. Optical coherence tomography showed spindle needle-shaped hyperreflective formations over the inner limiting membrane. Cardiac scintigraphy and skin biopsy stainings were positive. He had further neurological episodes despite Tafamidis treatment.</p> Discussion <p>Our case expands the phenotypic spectrum of the pathogenic p.Arg54Gly <i>TTR</i> gene variant, demonstrating intracranial hemorrhages, seizures with a prolonged post-ictal state, and amyloid deposits in heart and skin. OLMA may mimic various infectious, inflammatory and malignant conditions affecting the central nervous system. An accurate ophthalmological evaluation may help narrowing down broad differential diagnoses and raise the suspicion of uncommon systemic diseases.</p>

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Primary oculoleptomeningeal transthyretin amyloidosis with subarachnoid hemorrhages, visual loss, and heart and skin amyloid deposits

  • 期刊论文

  • 发表日期：

    2026年1月3日

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  • Alessandro Francia,
  • Daniele Mattavelli,
  • Massimiliano Braga,
  • Federico Zicarelli,
  • Alessandro Invernizzi,
  • Gianluca Marucci,
  • Silvia Fenu,
  • Davide Pareyson,
  • Leonardo Pantoni

摘要

Objective

Primary oculoleptomeningeal amyloidosis (OLMA) is a rare hereditary transthyretin (TTR) amyloidosis (ATTRv) associated with specific TTR variants. p.Arg54Gly is characterized by an ocular phenotype with vitreous opacities and chronic open-angle glaucoma.

Methods

We report for the first time the occurrence of subarachnoid hemorrhages, seizures, cardiac and skin amyloid deposits in a patient with OLMA carrying the TTR p.Arg54Gly variant.

Results

A 40-year-old man with a history of visual loss presented with altered mental status, right hemiplegia, and global aphasia, followed by a gradual recovery over 5 days. Brain MRI with gadolinium showed diffuse leptomeningeal enhancement and small convexity subarachnoid hemorrhagic foci. Optical coherence tomography showed spindle needle-shaped hyperreflective formations over the inner limiting membrane. Cardiac scintigraphy and skin biopsy stainings were positive. He had further neurological episodes despite Tafamidis treatment.

Discussion

Our case expands the phenotypic spectrum of the pathogenic p.Arg54Gly TTR gene variant, demonstrating intracranial hemorrhages, seizures with a prolonged post-ictal state, and amyloid deposits in heart and skin. OLMA may mimic various infectious, inflammatory and malignant conditions affecting the central nervous system. An accurate ophthalmological evaluation may help narrowing down broad differential diagnoses and raise the suspicion of uncommon systemic diseases.