一例罕见的II型遗传性感觉和自主神经病变。
A rare case of hereditary sensory and autonomic neuropathy type II.
作者信息
Mamytova Elmira, Jusupova Asel, Toktomametova Anara, Karbozova Kunduz, Kadyrova Begimay, Vityala Yethindra, Tagaev Tugolbai
机构信息
A.N. Murzaliev Department of Neurology and Clinical Genetics I.K. Akhunbaev Kyrgyz State Medical Academy Bishkek Kyrgyzstan.
Department of Special Clinical Disciplines International Higher School of Medicine Bishkek Kyrgyzstan.
出版信息
Clin Case Rep. 2023 Mar 2;11(3):e7015. doi: 10.1002/ccr3.7015. eCollection 2023 Mar.
We describe the follow-up of a 29-year-old man diagnosed with hereditary sensory and autonomic neuropathy type II, including the different complications that presented since his childhood. Despite efforts to maintain an optimal quality of life, the lack of an early diagnosis led to an unfavorable prognosis and life condition.
我们描述了一名29岁被诊断为II型遗传性感觉和自主神经病变男性的随访情况，包括自童年起出现的各种并发症。尽管努力维持最佳生活质量，但早期诊断的缺失导致了不良的预后和生活状况。
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