Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition
Small Fiber Neuropathy in Children: Two Case Reports Illustrating the Importance of Recognition
复制标题
DOI：
10.1542/peds.2016-1215
复制
发表时间：
2016-10-01
期刊：
影响因子：
8
通讯作者：
Vles, Johan S. H.
中科院分区：
文献类型：
--
作者：
Hoeijmakers, Janneke G. J.;Faber, Catharina G.;Vles, Johan S. H.
小纤维神经病(SFN)是一种衰弱的疾病，通常会导致疼痛和自主神经功能障碍。在过去的几十年里，SFN得到了越来越多的关注，特别是在成年人中。然而，有关儿童SFN的文献仍然有限。本文报告2例青春期女孩诊断为单纯性肾炎。第一名患者(14岁)多年来一直主诉双腿发痒和刺痛，以及自主神经障碍症状。她还报告说，由于温暖和站立，她的双腿出现了红色/紫色的变色，与红斑性疼痛相一致。通过皮肤活检标本中表皮内神经纤维密度(IENFD)的降低来确认SFN的诊断。没有发现潜在的情况。症状性神经病理性疼痛治疗开始，效果适中。第二例患者(16岁)在ICU因糖尿病酮症酸中毒入院6周后出现足部和手部疼痛感觉，其中包括自主神经障碍症状。她还表现出一些红斑痛的迹象。患者被诊断为主要的SFN(异常的IENFD和定量感觉测试)以及轻微的大神经纤维受累。达洛西汀的治疗，加上康复计划，使她的日常功能有了显著的改善。虽然这两个病例的SFN诊断可以根据成人SFN的定义来确定，但还需要其他更适合儿童的诊断工具。有关儿童SFN病程的更多信息可能会带来更好的治疗选择。
Small fiber neuropathy (SFN) is a debilitating condition that often leads to pain and autonomic dysfunction. In the last few decades, SFN has been gaining more attention, particularly in adults. However, literature about SFN in children remains limited. The present article reports the cases of 2 adolescent girls diagnosed with SFN. The first patient (14 years of age) complained about painful itch and tingling in her legs, as well as dysautonomia symptoms for years. She also reported a red/purple-type discoloration of her legs aggravated by warmth and standing, compatible with erythromelalgia. The diagnosis of SFN was confirmed by a reduced intraepidermal nerve fiber density (IENFD) in skin biopsy sample. No underlying conditions were found. Symptomatic neuropathic pain treatment was started with moderate effect. The second patient (16 years of age) developed painful sensations in both feet and hands 6 weeks after an ICU admission for diabetic ketoacidosis, which included dysautonomia symptoms. She also exhibited some signs of erythromelalgia. The patient was diagnosed with predominant SFN (abnormal IENFD and quantitative sensory testing) as well as minor large nerve fiber involvement. Treatment with duloxetine, combined with a rehabilitation program, resulted in a marked improvement in her daily functioning. Although the SFN diagnosis in these 2 cases could be established according to the definition of SFN used in adults, additional diagnostic tools are needed that may be more appropriate for children. Additional information about the course of SFN in children may result in better treatment options.