Brett M, Persey M R, Reilly M M, Revesz T, Booth D R, Booth S E, Hawkins P N, Pepys M B, Morgan-Hughes J A
Neurology Department, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Brain. 1999 Feb;122 ( Pt 2):183-90. doi: 10.1093/brain/122.2.183.
We report a middle-aged woman with a novel transthyretin (TTR) variant, Leu12Pro. She had extensive amyloid deposition in the leptomeninges and liver as well as the involvement of the heart and peripheral nervous system which characterizes familial amyloid polyneuropathy caused by variant TTR. Clinical features attributed to her leptomeningeal amyloid included radiculopathy, central hypoventilation, recurrent subarachnoid haemorrhage, depression, seizures and periods of decreased consciousness. MRI showed a marked enhancement throughout her meninges and ependyma, and TTR amyloid deposition was confirmed by meningeal biopsy. The simultaneous presence of extensive visceral amyloid and clinically significant deposits affecting both the peripheral and central nervous system extends the spectrum of amyloid-related disease associated with TTR mutations. The unusual association of severe peripheral neuropathy with symptoms of leptomeningeal amyloid indicates that leptomeningeal amyloidosis should be considered part of the syndrome of TTR-related familial amyloid polyneuropathy.
我们报告了一名患有新型转甲状腺素蛋白（TTR）变体Leu12Pro的中年女性。她的软脑膜和肝脏有广泛的淀粉样蛋白沉积，心脏和周围神经系统也受累，这是由变体TTR引起的家族性淀粉样多神经病的特征。归因于她软脑膜淀粉样蛋白的临床特征包括神经根病、中枢性通气不足、复发性蛛网膜下腔出血、抑郁、癫痫发作和意识减退期。MRI显示她的整个脑膜和室管膜有明显强化，软脑膜活检证实了TTR淀粉样蛋白沉积。广泛的内脏淀粉样蛋白与影响外周和中枢神经系统的具有临床意义的沉积物同时存在，扩展了与TTR突变相关的淀粉样相关疾病的范围。严重的周围神经病变与软脑膜淀粉样蛋白症状的异常关联表明，软脑膜淀粉样变性应被视为TTR相关家族性淀粉样多神经病综合征的一部分。
