SynthesisOrphanet journal of rare diseases2025
Hereditary leptomeningeal transthyretin amyloidosis with heterozygous TTR mutation: a case report and literature review.
Synthesis in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
6 authors.
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Abstract
objectiveThis study aimed to characterize the clinical and neuroimaging features of hereditary leptomeningeal transthyretin amyloidosis (hATTR-LA), a dominant inheritance disorder caused by a heterozygous TTR gene mutation.
methodsA comprehensive retrospective evaluation was conducted, incorporating detailed clinical records, multimodal neuroimaging findings, and a systematic review of the literature to contextualize the observations.
resultsThe patient was a 55-year-old male who presented with chronic central nervous system symptoms, including sensory-motor peripheral neuropathy and progressive visual impairment. Cerebrospinal fluid analysis revealed elevated protein levels. Neuroimaging showed progressive leptomeningeal hyperdensity on CT and characteristic linear thickening with enhancement of the leptomeninges on MRI, involving both cerebral and spinal regions. Genetic testing confirmed the diagnosis by identifying a heterozygous c.265T > C (p.Y89H) pathogenic variant in exon 3 of the TTR gene, classified as pathogenic according to ACMG guidelines.
conclusionMultimodal imaging provides valuable, non-invasive insights for diagnosing hATTR-LA, enhancing diagnostic accuracy and informing clinical management of this rare condition.
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