Jain R S, Jain Rahul, Mathur Tarun, Raghavendra B S, Handa Rahul, Jain Ayushi, Bagarhatta R
J Assoc Physicians India. 2014 Jun;62(6):538-41.
Hereditary amyloid polyneuropathies are rare, heterogeneous group of autosomal dominant disorders and deserve special attention because of its rare presentation, multisystem involvement and significant therapeutic implications if diagnosed early. We report a male patient of hereditary amyloid polyneuropathy from North West India with peripheral nerve, autonomic nervous system, vitreous and cardiac involvement.
遗传性淀粉样多神经病是一组罕见的、异质性的常染色体显性疾病,因其罕见的临床表现、多系统受累以及早期诊断后的重大治疗意义而值得特别关注。我们报告一例来自印度西北部的遗传性淀粉样多神经病男性患者,其外周神经、自主神经系统、玻璃体和心脏均受累。