Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Division of Child Neurology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.
Am J Med Genet A. 2024 Sep;194(9):e63633. doi: 10.1002/ajmg.a.63633. Epub 2024 Apr 18.
TANGO2 deficiency disorder (TDD) is a neurodegenerative disease characterized by a broad and variable spectrum of clinical manifestations, even among individuals sharing the same pathogenic variants. Here, we report a severely affected individual with TDD presenting with intractable paroxysmal sympathetic hyperactivity (PSH). While progressive brain atrophy has been observed in TDD, PSH has not been reported. Despite comprehensive workup for an acute trigger, no definite cause was identified, and pharmacological interventions were ineffective to treat PSH. Ultimately care was redirected to comfort measures. This article expands the clinical phenotype of patients with TDD, highlights the possibility of PSH in these patients, and the need for continued research for better treatments of TDD.
TANGO2 缺陷障碍（TDD）是一种神经退行性疾病，其临床表型广泛且多变，即使在具有相同致病性变异的个体中也是如此。在这里，我们报告了一例 TDD 患者表现为难治性阵发性交感神经过度兴奋（PSH）的严重病例。虽然 TDD 患者可观察到进行性脑萎缩，但尚未报道 PSH。尽管对急性触发因素进行了全面检查，但仍未确定明确的病因，药物干预对 PSH 无效。最终，治疗方向转为舒适护理。本文扩展了 TDD 患者的临床表型，强调了这些患者出现 PSH 的可能性，以及需要进一步研究以改善 TDD 的治疗。
