Dinescu S C, Ciurea P L, Vreju F A, Săndulescu D L, Musetescu A E
Department of Rheumatology, Emergency County Hospital Craiova, Romania.
University of Medicine and Pharmacy of Craiova, Romania.
Curr Health Sci J. 2017 Jan-Mar;43(1):78-82. doi: 10.12865/CHSJ.43.01.12. Epub 2017 Sep 27.
Currently incurable, Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurological disorder, which affects a small percentage of the population. The most common cause of CMT is the duplication of a region on the short arm of chromosome 17, which includes the gene PMP22. We report a thirty-seven-year-old man with CMT disease having sleep, memory and attention disorders characterized by brief retrograde amnesia at early age. The patient has no genetic disease in the family, but was diagnosed with diabetes mellitus, which emphasizes the sensory loss and prolonged infections. Diabetes mellitus emphasizes the sensory symptomatology and predisposes to the development of infections with delayed healing.
夏科-马里-图思(CMT)病目前无法治愈,是最常见的遗传性神经疾病,影响着一小部分人群。CMT最常见的病因是17号染色体短臂上一个区域的重复,该区域包含PMP22基因。我们报告了一名37岁患有CMT病的男性,其具有睡眠、记忆和注意力障碍,特征为早年出现短暂逆行性遗忘。该患者家族中无遗传病史,但被诊断患有糖尿病,这加重了感觉丧失和长期感染。糖尿病加重了感觉症状,并易引发感染且愈合延迟。