■Kearns-Sayre综合征(KSS)被归类为多系统参与的线粒体DNA(mtDNA)缺失综合征之一。此外,阴性预后与遗传性血栓形成有关,其中包括纯合因子VG1691A莱顿突变的存在,MTHFR基因多态性C677T和A1298C,和PAI-1675纯合基因型5G/5G。
本病例报告介绍了一名48岁的慢性进行性眼外肌麻痹患者,双侧下垂,小脑共济失调,心血管体征(晕厥,扩张型心肌病,和心脏骤停)伴有心电图异常(一级房室传导阻滞和主要右束支传导阻滞),内分泌功能障碍(身材矮小,生长激素不足,原发性性腺功能不全,甲状腺功能减退,和继发性甲状旁腺功能亢进),分子遗传测试(MT-TL2基因),和异常的MRI脑部图像,从而导致KSS的诊断。患者在确诊后4周回到急诊科,出现大面积双侧肺栓塞伴晕厥,急性心肺衰竭,左股—————————————————————————————————————————————————————————————————————————————————————————————————和改变神经状态。在重症监护室,他通过插管接受了机械通气。2周后观察到显著的改善。该患者的遗传性血栓形成呈阳性,并在稳定的情况下接受了20mg/天的利伐沙班新疗法。随访6个月时,ECG-Holter监测和MRI脑部图像保持不变。然而,三个月后,病人在家睡觉时突然死亡。
■对KSS患者进行的基因检测还应包括遗传性血栓形成倾向。通过检测这些突变,我们可以预防脑静脉窦血栓形成等重大并发症,冠状动脉事故,或者突然死亡。
UNASSIGNED: Kearns-Sayre syndrome (KSS) is classified as one of the mitochondrial DNA (mtDNA) deletion syndromes with multisystemic involvement. Additionally, the negative prognosis is associated with inherited thrombophilia, which includes the presence of homozygous Factor V G1691A Leiden mutation, MTHFR gene polymorphisms C677T and A1298C, and PAI-1 675 homozygous genotype 5G/5G.
UNASSIGNED: This case report presents a 48-year-old man with chronic progressive external ophthalmoplegia, bilateral ptosis, cerebellar ataxia, cardiovascular signs (syncope, dilated cardiomyopathy, and cardiac arrest) with electrocardiographic abnormalities (first-degree atrioventricular block and major right bundle branch block), endocrine dysfunction (short stature, growth hormone insufficiency, primary gonadal insufficiency, hypothyroidism, and secondary hyperparathyroidism), molecular genetic tests (MT-TL2 gene), and abnormal MRI brain images, thus leading to the diagnosis of KSS. The patient came back 4 weeks after the diagnosis to the emergency department with massive bilateral pulmonary embolism with syncope at onset, acute cardiorespiratory failure, deep left femoral-popliteal vein thrombophlebitis, and altered neurological status. In the intensive care unit, he received mechanical ventilation through intubation. Significant improvement was seen after 2 weeks. The patient tested positive for inherited thrombophilia and was discharged in stable conditions on a new treatment with Rivaroxaban 20 mg/day. At 6 months of follow-up, ECG-Holter monitoring and MRI brain images remained unchanged. However, after 3 months, the patient died suddenly while sleeping at home.
UNASSIGNED: The genetic tests performed on KSS patients should also include those for inherited thrombophilia. By detecting these mutations, we can prevent major complications such as cerebral venous sinus thrombosis, coronary accidents, or sudden death.