PDF(Pubmed)
Abstract：
BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a subset of rare mitochondrial diseases characterized by diverse clinical manifestations, which often complicates its diagnosis.
METHODS: This report chronicles the experiences of a 14-year-old female patient who underwent multiple misdiagnoses before the eventual identification of MELAS syndrome. Her journey began with symptoms that included growth retardation, hypertrophic cardiomyopathy, and epilepsy.
METHODS: The definitive diagnosis of MELAS syndrome was established through genetic confirmation, revealing a mutation in the MT-TL1 gene (m.3242A > G).
METHODS: Upon diagnosis, the patient received targeted symptomatic treatment, which led to pronounced improvements in her symptoms.
RESULTS: The patient\'s condition stabilized with the administered treatments, and she exhibited significant symptom relief, emphasizing the importance of accurate diagnosis and timely intervention.
CONCLUSIONS: This case underscores the imperative for heightened clinical vigilance and thorough differential diagnosis in the face of complex clinical presentations, such as those seen in MELAS syndrome, to ensure timely and appropriate interventions.
METHODS: This report chronicles the experiences of a 14-year-old female patient who underwent multiple misdiagnoses before the eventual identification of MELAS syndrome. Her journey began with symptoms that included growth retardation, hypertrophic cardiomyopathy, and epilepsy.
METHODS: The definitive diagnosis of MELAS syndrome was established through genetic confirmation, revealing a mutation in the MT-TL1 gene (m.3242A > G).
METHODS: Upon diagnosis, the patient received targeted symptomatic treatment, which led to pronounced improvements in her symptoms.
RESULTS: The patient\'s condition stabilized with the administered treatments, and she exhibited significant symptom relief, emphasizing the importance of accurate diagnosis and timely intervention.
CONCLUSIONS: This case underscores the imperative for heightened clinical vigilance and thorough differential diagnosis in the face of complex clinical presentations, such as those seen in MELAS syndrome, to ensure timely and appropriate interventions.
摘要：
背景：线粒体脑肌病，乳酸性酸中毒,和中风样发作（MELAS）综合征是罕见的线粒体疾病的一个子集，其特征是不同的临床表现，这往往使其诊断复杂化。
方法：本报告记录了一名14岁女性患者在最终确认MELAS综合征之前多次误诊的经历。她的旅程始于包括生长迟缓在内的症状，肥厚型心肌病,和癫痫。
方法：MELAS综合征的明确诊断是通过基因确认，揭示MT-TL1基因的突变（m.3242A>G）。
方法：诊断后，患者接受了针对性的对症治疗，导致她的症状明显改善.
结果：患者的病情在接受治疗后稳定下来，她表现出明显的症状缓解，强调准确诊断和及时干预的重要性。
结论：该病例强调了在面对复杂的临床表现时提高临床警惕性和彻底鉴别诊断的必要性，例如在MELAS综合征中看到的那些，确保及时和适当的干预。
方法：本报告记录了一名14岁女性患者在最终确认MELAS综合征之前多次误诊的经历。她的旅程始于包括生长迟缓在内的症状，肥厚型心肌病,和癫痫。
方法：MELAS综合征的明确诊断是通过基因确认，揭示MT-TL1基因的突变（m.3242A>G）。
方法：诊断后，患者接受了针对性的对症治疗，导致她的症状明显改善.
结果：患者的病情在接受治疗后稳定下来，她表现出明显的症状缓解，强调准确诊断和及时干预的重要性。
结论：该病例强调了在面对复杂的临床表现时提高临床警惕性和彻底鉴别诊断的必要性，例如在MELAS综合征中看到的那些，确保及时和适当的干预。
