| Autor: |
Yılmaz-Gümüş, Emel, Elcioglu, Nursel H., Genç, Emine, Arıcı, Şule, Öztürk, Gülten, Yapıcı, Özge, Akalın, Figen, Öztürk-Hişmi, Burcu |
| Zdroj: |
Journal of Pediatric Endocrinology & Metabolism; Oct2023, Vol. 36 Issue 10, p983-987, 5p |
| Abstrakt: |
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. 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. With this report, we aimed to show the effectiveness of vitamin B-complex in the management of acute metabolic crises. [ABSTRACT FROM AUTHOR] |
| Databáze: |
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