PDF(Pubmed)
Abstract：
We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.
摘要：
我们报告了一例27岁的男性，其甲状腺素运载蛋白淀粉样变性继发于p.Val142Ile突变，其非典型临床表现主要为下肢多发性神经病，无心脏受累。p.Val142Ile主要与心脏病有关，而神经病的表型主要与p.Val50Met有关。我们的患者属于非流行地区，由于缺乏支持网络，可能的家族成分未知。鉴于与该疾病相关的临床表现的广泛异质性，他的病例代表了诊断挑战，根据患病率和频率，其他可能的多发性神经病的诊断被合理排除。特别不寻常的基因型-表型关联将这种情况与p.Val142Ile继发的转甲状腺素蛋白淀粉样变性的经典描述区分开来。
