Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
Kaitlin MorrisonHitoshi KoshiyaRobert SafierAmanda BrownCarol MayJerry VockleyLina Ghaloul-GonzalezPublished in: American journal of medical genetics. Part A (2024)
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.
Keyphrases
- case report
- end stage renal disease
- atrial fibrillation
- ejection fraction
- multiple sclerosis
- newly diagnosed
- healthcare
- physical activity
- peritoneal dialysis
- social media
- palliative care
- catheter ablation
- resting state
- quality improvement
- replacement therapy
- white matter
- copy number
- health information
- drug induced
- functional connectivity
- brain injury
- dna methylation
- acute respiratory distress syndrome