Management of acute metabolic crisis in TANGO2 deficiency: a case report
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Emel Yılmaz-Gümüş
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Nursel H. Elcioglu
Abstract
Objectives
TANGO2 deficiency is a rare inborn error of metabolism, with distinct clinical features. The clinical presentations of TANGO2 deficiency are developmental delay, speech difficulties, intellectual disability, non-life-threatening paroxysmal neurologic episodes (TANGO2 spells), acute metabolic crises, cardiac crises, seizures and hypothyroidism. Patients may die in acute metabolic crises. Here we report our experience in the management of an acute metabolic crisis in TANGO2 deficiency.
Case presentation
A 9-year-old patient diagnosed with TANGO2 deficiency was admitted with fever, fatigue, unable to walk. In follow up, encephalopathy, rhabdomyolysis and arrhythmia were detected. Vitamin B-complex was started. Our patient’s mental status and rhabdomyolysis improved dramatically, and cardiac crises ended without Torsades de pointes, ventricular tachycardia and/or fibrillation or myocardial dysfunction.
Conclusions
With this report, we aimed to show the effectiveness of vitamin B-complex in the management of acute metabolic crises.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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Articles in the same Issue
- Frontmatter
- Reviews
- Artificial Intelligence (AI) in pediatric endocrinology
- Relationship between vitamin D deficiency and neonatal hypocalcemia: a meta-analysis
- Original Articles
- Associated autoimmune thyroid diseases in children and adolescents with type one diabetes in Jordan
- The therapeutic effect of oral desmopressin lyophilisate formulation in children with central diabetes insipidus
- Effect of complete suppression of androstenedione on auxological development in prepubertal patients with classical congenital adrenal hyperplasia
- Safety and efficacy of the structured onboarding steps and initiation protocol for MiniMed™ 780G system among an Egyptian cohort of young people living with type 1 diabetes
- The effect of problem-solving skills on blood glucose regulation and disease management in children with type 1 diabetes mellitus
- Depression, anxiety, eating problems, and diabulimia risk in adolescents with type 1 diabetes: a case–control study
- Genotyping in patients with congenital adrenal hyperplasia by sequencing of newborn bloodspot samples
- Case Reports
- A pediatric case of autosomal dominant hypocalcemia type 2
- Very severe hypertriglyceridemia complicating pediatric acute lymphoblastic leukemia treatment: a call for management guidelines
- Management of acute metabolic crisis in TANGO2 deficiency: a case report
- Novel PAX4 variant in a child and family with diabetes mellitus – case report and review of the literature
- Graves’ disease after COVID mRNA vaccination for the first time diagnosed in adolescence-case report. Cause and effect relationship or simple coincidence?
