Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
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DOI：
10.1002/ajmg.a.63633
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发表时间：
2024-04
期刊：
影响因子：
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通讯作者：
Kaitlin Morrison;Hitoshi Koshiya;R. Safier;Amanda Brown;Carol May;J. Vockley;Lina Ghaloul-Gonzalez
中科院分区：
文献类型：
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作者：
Kaitlin Morrison;Hitoshi Koshiya;R. Safier;Amanda Brown;Carol May;J. Vockley;Lina Ghaloul-Gonzalez
TANGO2缺乏症（TDD）是一种神经退行性疾病，其特征在于广泛且可变的临床表现谱，甚至在共享相同致病性变体的个体之间。在这里，我们报告了一个严重影响个人与TDD表现为顽固性阵发性交感神经功能亢进（PSH）。虽然在TDD中观察到进行性脑萎缩，但尚未报告PSH。尽管对急性触发因素进行了全面的检查，但没有确定确切的原因，药物干预对治疗PSH无效。最终，护理被重定向到舒适措施。这篇文章扩展了TDD患者的临床表型，强调了这些患者中PSH的可能性，以及继续研究以更好地治疗TDD的必要性。
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.