疲劳和运动不耐受是由m.3243A>G变异引起的非综合征性线粒体疾病的初始表现

IF 0.9 Q4 CLINICAL NEUROLOGY
J. Finsterer, Sinda Zarrouk
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引用次数: 0

摘要

疲劳和运动不耐受很少被报道为线粒体疾病(MID)的初始和单发表现。我们提出了一个病人与疲劳和运动不耐受的非综合征性MID作为其疾病的初始表现。病例报告。一名39岁的女性从18岁开始出现疲劳,从21岁开始出现运动不耐受。后来,她出现桥本甲状腺炎、复发性弥漫性头痛和运动时复视。临床检查显示身材矮小,双侧上睑下垂,部分肌腱反射减少,小腿肥大。血清乳酸升高,乳酸应激试验异常。对疑似MID的检查显示红色纤维和nadh缺乏肌纤维,生化检查显示轻度复合物- 1缺陷。mtDNA测序显示m.3243A>G变异在肌肉中的异质性率为70%。结论本病例表明,MID的最初表现可能是疲劳和运动不耐受。由m.3243A>G变型引起的MIDs可能具有缓慢进行性病程,仅延迟多系统受累。变异m.3243A>G不仅可能表现为综合征型MID,特别是MELAS,也可能表现为非综合征型表型。即使没有其他表型表现,MIDs也应被视为慢性疲劳的鉴别。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G
Objectives Fatigue and exercise intolerance have been only rarely reported as initial- and sole-onset manifestations of a mitochondrial disorder (MID). We present a patient with nonsyndromic MID with fatigue and exercise intolerance as its initial manifestations of the disease. Case Report. A 39 yo female experienced fatigue since age 18 and exercise intolerance since age 21. Later on, she developed Hashimoto thyroiditis, recurrent diffuse headache, and double vision upon exercise. Clinical exam revealed short stature, bilateral ptosis, partially reduced tendon reflexes, and hypertrophic calves. Serum lactate was elevated, and the lactate stress test was abnormal. Workup for suspected MID revealed ragged-red fibers and NADH-deficient muscle fibers, and biochemical investigations revealed a mild complex-I defect. mtDNA sequencing revealed the variant m.3243A>G with a heteroplasmy rate of 70% in the muscle. Conclusions This case shows that the initial manifestation of a MID can be fatigue and exercise intolerance. MIDs due to the m.3243A>G variant may have a slowly progressive course and only delayed multisystem involvement. The variant m.3243A>G may not only manifest as syndromic MID, particularly MELAS but also as nonsyndromic phenotype. MIDs should be considered as differentials of chronic fatigue even if no other phenotypic manifestation of a MID is present.
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