Gonzalez Corcia M Cecilia, Bradshaw Catherine, Chronopoulou Efstathia, Shortland Jennifer, O'Sullivan Benjamin, Murphy Tim
Paediatric Cardiology Department, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK.
Paediatric Surgical Department, Bristol Royal Hospital for Children, Upper Maudlin Street, Bristol BS2 8BJ, UK.
Case Rep Pediatr. 2024 Dec 4;2024:9911781. doi: 10.1155/2024/9911781. eCollection 2024.
TANGO2 deficiency disorder, a rare autosomal recessive genetic disorder characterised by biallelic loss-of-function variants in the TANGO2 gene, was first described in 2016. This disorder involves the transport and Golgi organisation homologue, impacting Golgi membrane redistribution into the endoplasmic reticulum. Clinically, affected individuals exhibit a multiorgan phenotype, with prominent neurological manifestations such as developmental delay and regression. Metabolic crises, triggered by minor infections or fasting, are a hallmark of the disorder. We present the case of a 5-year-old boy diagnosed with TANGO2 deficiency disorder who experienced a refractory-to-treatment ventricular arrhythmia storm. The patient's clinical course was marked by rhabdomyolysis-induced muscle pain, weakness and dark urine. Despite aggressive medical management during intercurrent illness, including hyperhydration, maintenance of normoglycemia and correction of electrolyte abnormalities, the patient's condition deteriorated, leading to a life-threatening ventricular arrhythmia storm. In a life-saving therapeutic approach, the patient underwent a thoracoscopic left sympathectomy during extracorporeal membrane oxygenation (ECMO) support. Remarkably, this intervention resulted in the termination of the ventricular arrhythmia storm. The case underscores the challenges in managing TANGO2 deficiency disorder-associated complications and highlights the potential role of innovative interventions, such as sympathectomy during ECMO, in critical and refractory cases. This case contributes to the understanding of the clinical spectrum of TANGO2 deficiency disorder and emphasises the need for further research into targeted therapies for this rare metabolic condition, where current treatment strategies focus on symptom management.
TANGO2缺乏症是一种罕见的常染色体隐性遗传病，其特征是TANGO2基因存在双等位基因功能丧失变异，于2016年首次被描述。这种疾病涉及转运和高尔基体组织同源物，影响高尔基体膜向内质网的重新分布。临床上，受影响的个体表现出多器官表型，伴有发育迟缓、倒退等突出的神经学表现。由轻微感染或禁食引发的代谢危机是该疾病的一个标志。我们报告了一例5岁男孩被诊断为TANGO2缺乏症，他经历了难治性室性心律失常风暴。患者的临床病程以横纹肌溶解引起的肌肉疼痛、无力和深色尿液为特征。尽管在并发疾病期间进行了积极的医疗管理，包括补液、维持血糖正常和纠正电解质异常，但患者的病情仍恶化，导致危及生命的室性心律失常风暴。在一种挽救生命的治疗方法中，患者在体外膜肺氧合（ECMO）支持下接受了胸腔镜下左侧交感神经切除术。值得注意的是，这一干预措施导致室性心律失常风暴终止。该病例强调了管理TANGO2缺乏症相关并发症的挑战，并突出了创新干预措施（如在ECMO期间进行交感神经切除术）在危急和难治性病例中的潜在作用。该病例有助于理解TANGO2缺乏症的临床谱，并强调需要进一步研究针对这种罕见代谢疾病的靶向治疗方法，目前的治疗策略主要侧重于症状管理。
