BACKGROUND: Leigh syndrome (LS) is one of the most common mitochondrial disorders in the pediatric population, primarily affecting infants and children. It presents with diverse clinical manifestations and is often misdiagnosed or underdiagnosed in clinical practice. CASE PRESENTATION: In the present investigation, a retrospective analysis was conducted on a pediatric case manifesting symptoms akin to Takotsubo cardiomyopathy (TTC) characterized by an acute onset. The clinical manifestations and radiographic imaging data of the pediatric patient were analyzed. In addition, genetic screening on the patient and her family members was conducted. Based on these findings, the patient was conclusively diagnosed with LS. Subsequently, the relevant literature was reviewed, and the clinical characteristics of this disease were summarized. CONCLUSION: There were no prior reports of LS concomitant with TTC. TTC is a severe complication of LS. Early detection and comprehensive treatment are crucial for the successful recovery of patients with TTC. The case examined in this study provides valuable insights into the successful treatment of LS concomitant with TTC.
ISSN: 0172-780X |
ISSN-L: 0172-780X |
eISSN 2354-4716
www.nel.edu Editor-in-Chief: Peter G. Fedor-Freybergh
www.nel.edu Editor-in-Chief: Peter G. Fedor-Freybergh