背景:遗传性转甲状腺素蛋白淀粉样变性,由运甲状腺素蛋白基因突变引起的,进展与全身影响,并经常表现为周围神经病变。最近的研究揭示了中枢神经系统受累,以软脑膜淀粉样蛋白积累和短暂性局灶性神经系统发作为特征,显示皮质功能障碍。
方法:一名47岁的高加索人,患有遗传性甲状腺素运载蛋白淀粉样变性,表现为运动性失语,右偏瘫,发烧,和意识状态的改变。检查排除了中风或感染。在改进的同时,尽管努力转移注意力或引入新的刺激,患者仍报告持续48小时的听觉重复现象.
结论:这是第一个已知的病例报告,记录了归因于中枢神经系统受累的遗传性甲状腺素运载蛋白淀粉样变性。这种情况突出了当神经和精神症状重叠时患者评估和管理的复杂性。
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.