Thapa Sangharsha, Shah Sangam, Chand Swati, Sah Sanjit Kumar, Gyawali Pawan, Paudel Sandip, Khanal Pitambar
University of Minnesota Medical School Twin Cities Minneapolis Minnesota USA.
Institute of Medicine Tribhuvan University Kirtipur Nepal.
Clin Case Rep. 2022 Sep 6;10(9):e6303. doi: 10.1002/ccr3.6303. eCollection 2022 Sep.
Ataxia with vitamin E deficiency (AVED) is a rare cause of hereditary ataxia in developing countries with unknown prevalence. AVED is an autosomal-recessive disorder, which is characterized by ataxia, areflexia, and proprioceptive and vibratory sensory loss. The disease is characterized clinically by symptoms with often resembling to those of Friedreich ataxia (FRDA). Vitamin E supplementation improves symptoms and prevents the progression of the disease. In this case report, we reviewed the recently updated findings in AVED in regard to the management and present a case of AVED in a 16-year-old boy, who was initially misdiagnosed as FRDA, prior to the genetic test.
维生素E缺乏共济失调（AVED）在发展中国家是遗传性共济失调的罕见病因，其患病率未知。AVED是一种常染色体隐性疾病，其特征为共济失调、反射消失以及本体感觉和振动觉丧失。该疾病临床上的症状常与弗里德赖希共济失调（FRDA）相似。补充维生素E可改善症状并阻止疾病进展。在本病例报告中，我们回顾了AVED在治疗方面的最新研究结果，并呈现了一名16岁男孩患AVED的病例，该男孩在基因检测之前最初被误诊为FRDA。
