Department of Public Health and Forensic Sciences, and Medical Education, Faculty of Medicine, University of Porto, Porto, Portugal.
UMIB, Unit for Multidisciplinary Research in Biomedicine, ICBAS, School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.
J Med Case Rep. 2024 Jul 16;18(1):345. doi: 10.1186/s13256-024-04575-3.
Hereditary transthyretin amyloidosis, caused by transthyretin gene mutations, progresses with systemic impact and often presents peripheral neuropathy. Recent research reveals central nervous system involvement, marked by leptomeningeal amyloid accumulation and transient focal neurological episodes displaying cortical dysfunction.
A 47-year-old Caucasian man with hereditary transthyretin amyloidosis presented with motor aphasia, right hemiparesis, fever, and an altered state of consciousness. Tests ruled out stroke or infection. While improving, the patient reported an ongoing auditory repetition phenomenon for 48 hours despite efforts to shift focus or introduce new stimuli.
This represents the first known case report documenting palinacousis in hereditary transthyretin amyloidosis attributed to central nervous system involvement. This case highlights the complexities in assessment and management of patients when neurological and psychiatric symptoms overlap.
遗传性转甲状腺素蛋白淀粉样变性是由转甲状腺素蛋白基因突变引起的，会导致全身性影响，常伴有周围神经病。最近的研究表明，中枢神经系统也会受到影响，表现为软脑膜淀粉样物质沉积和短暂的局灶性神经功能障碍，伴有皮质功能障碍。
一名 47 岁的白人男性，患有遗传性转甲状腺素蛋白淀粉样变性，出现运动性失语、右侧偏瘫、发热和意识改变。检查排除了中风或感染。尽管患者努力转移注意力或引入新的刺激，但仍持续出现听觉重复现象，持续了 48 小时，在病情改善的过程中。
这是首例已知的遗传性转甲状腺素蛋白淀粉样变性中枢神经系统受累导致的 palinacousis 病例报告。该病例突出了在神经和精神症状重叠时，对患者进行评估和管理的复杂性。
