| Autor: |
Morrison, Kaitlin, Koshiya, Hitoshi, Safier, Robert, Brown, Amanda, May, Carol, Vockley, Jerry, Ghaloul‐Gonzalez, Lina |
| Zdroj: |
American Journal of Medical Genetics. Part A; Sep2024, Vol. 194 Issue 9, p1-5, 5p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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