Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.
TANGO2 deficiency
paroxysmal sympathetic hyperactivity
storming
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
18 Apr 2024
18 Apr 2024
Historique:
revised:
27
03
2024
received:
23
01
2024
accepted:
05
04
2024
medline:
18
4
2024
pubmed:
18
4
2024
entrez:
18
4
2024
Statut:
aheadofprint
Résumé
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.
Identifiants
pubmed: 38634641
doi: 10.1002/ajmg.a.63633
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63633Subventions
Organisme : NHGRI NIH HHS
ID : 1K08 HG010490
Pays : United States
Informations de copyright
© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
Références
Asadi, P., Milev, M. P., Saint‐Dic, D., Gamberi, C., & Sacher, M. (2023). Vitamin B5, a coenzyme a precursor, rescues TANGO2 deficiency disease‐associated defects in drosophila and human cells. Journal of Inherited Metabolic Disease, 46(2), 358–368. https://doi.org/10.1002/jimd.12579
Berat, C. M., Montealegre, S., Wiedemann, A., Nuzum, M. L. C., Blondel, A., Debruge, H., Cano, A., Chabrol, B., Hoebeke, C., Polak, M., Stoupa, A., Feillet, F., Torre, S., Boddaert, N., Bruel, H., Barth, M., Damaj, L., Abi‐Warde, M. T., Afenjar, A., … de Lonlay, P. (2021). Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect. Journal of Inherited Metabolic Disease, 44(2), 415–425. https://doi.org/10.1002/jimd.12314
Boeve, B. F., Wijdicks, E. F., Benarroch, E. E., & Schmidt, K. D. (1998). Paroxysmal sympathetic storms (“diencephalic seizures”) after severe diffuse axonal head injury. Mayo Clinic Proceedings, 73(2), 148–152. https://doi.org/10.1016/S0025-6196(11)63647-1
Coste de Bagneaux, P., von Elsner, L., Bierhals, T., Campiglio, M., Johannsen, J., Obermair, G. J., Hempel, M., Flucher, B. E., & Kutsche, K. (2020). A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non‐channel functions. PLoS Genetics, 16(3), e1008625. https://doi.org/10.1371/journal.pgen.1008625
Dines, J. N., Golden‐Grant, K., LaCroix, A., Muir, A. M., Cintron, D. L., McWalter, K., Cho, M. T., Sun, A., Merritt, J. L., Thies, J., Niyazov, D., Burton, B., Kim, K., Fleming, L., Westman, R., Karachunski, P., Dalton, J., Basinger, A., Ficicioglu, C., … Mefford, H. C. (2019). TANGO2: Expanding the clinical phenotype and spectrum of pathogenic variants. Genetics in Medicine, 21(3), 601–607. https://doi.org/10.1038/s41436-018-0137-y
Hauer, J., Houtrow, A. J., Section On, H., & Palliative Medicine, C. O. C. W. D. (2017). Pain assessment and treatment in children with significant impairment of the central nervous system. Pediatrics, 139(6). https://doi.org/10.1542/peds.2017-1002
Heiman, P., Mohsen, A. W., Karunanidhi, A., St Croix, C., Watkins, S., Koppes, E., Haas, R., Vockley, J., & Ghaloul‐Gonzalez, L. (2022). Mitochondrial dysfunction associated with TANGO2 deficiency. Scientific Reports, 12(1), 3045. https://doi.org/10.1038/s41598-022-07076-9
Hinson, H. E., Puybasset, L., Weiss, N., Perlbarg, V., Benali, H., Galanaud, D., Lasarev, M., Stevens, R. D., & Neuro Imaging for Coma Emergence, Recovery (NICER) Consortium. (2015). Neuroanatomical basis of paroxysmal sympathetic hyperactivity: A diffusion tensor imaging analysis. Brain Injury, 29(4), 455–461. https://doi.org/10.3109/02699052.2014.995229
Jennions, E., Hedberg‐Oldfors, C., Berglund, A. K., Kollberg, G., Tornhage, C. J., Eklund, E. A., Oldfors, A., Verloo, P., Vanlander, A. V., De Meirleir, L., Seneca, S., Sterky, F. H., & Darin, N. (2019). TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism. Journal of Inherited Metabolic Disease, 42(5), 898–908. https://doi.org/10.1002/jimd.12149
Kremer, L. S., Distelmaier, F., Alhaddad, B., Hempel, M., Iuso, A., Kupper, C., Muhlhausen, C., Kovacs‐Nagy, R., Satanovskij, R., Graf, E., Berutti, R., Eckstein, G., Durbin, R., Sauer, S., Hoffmann, G. F., Strom, T. M., Santer, R., Meitinger, T., Klopstock, T., … Haack, T. B. (2016). Bi‐allelic truncating mutations in TANGO2 cause infancy‐onset recurrent metabolic crises with Encephalocardiomyopathy. American Journal of Human Genetics, 98(2), 358–362. https://doi.org/10.1016/j.ajhg.2015.12.009
Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., Miyake, C. Y., Shinawi, M., Gambin, T., Eldomery, M. K., Akdemir, Z. H., Emrick, L., Wilnai, Y., Schelley, S., Koenig, M. K., … Yang, Y. (2016). Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to Bi‐allelic TANGO2 mutations. American Journal of Human Genetics, 98(2), 347–357. https://doi.org/10.1016/j.ajhg.2015.12.008
Miao, H., Huang, H., Chen, W., Su, Y. Y., & Zhang, Y. (2023). Clinical characteristics and prognosis of paroxysmal sympathetic hyperactivity in patients with severe nontraumatic brain injury. Brain Injury, 37(2), 95–100. https://doi.org/10.1080/02699052.2023.2165151
Mingirulli, N., Pyle, A., Hathazi, D., Alston, C. L., Kohlschmidt, N., O'Grady, G., Waddell, L., Evesson, F., Cooper, S. B. T., Turner, C., Duff, J., Topf, A., Yubero, D., Jou, C., Nascimento, A., Ortez, C., Garcia‐Cazorla, A., Gross, C., O'Callaghan, M., … Horvath, R. (2020). Clinical presentation and proteomic signature of patients with TANGO2 mutations. Journal of Inherited Metabolic Disease, 43(2), 297–308. https://doi.org/10.1002/jimd.12156
Miyake, C. Y., Ehsan, S. A., Zhang, L., Mackenzie, S. J., Azamian, M. S., Scott, D. A., Hernandez‐Garcia, A., & Lalani, S. R. (2023). Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study. American Journal of Medical Genetics. Part A, 191(9), 2433–2439. https://doi.org/10.1002/ajmg.a.63331
Miyake, C. Y., Lay, E. J., Soler‐Alfonso, C., Glinton, K. E., Houck, K. M., Tosur, M., Moran, N. E., Stephens, S. B., Scaglia, F., Howard, T. S., Kim, J. J., Pham, T. D., Valdes, S. O., Li, N., Murali, C. N., Zhang, L., Kava, M., Yim, D., Beach, C., … Lalani, S. R. (2023). Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genetics in Medicine, 25(4), 100352. https://doi.org/10.1016/j.gim.2022.11.020
Roston, T. M., & Sanatani, S. (2022). A dangerous dance: Recurrent cardiac crises in TANGO2‐deficiency disorder. Heart Rhythm, 19(10), 1682–1683. https://doi.org/10.1016/j.hrthm.2022.05.030
Sandkuhler, S. E., Zhang, L., Meisner, J. K., Ghaloul‐Gonzalez, L., Beach, C. M., Harris, D., de Lonlay, P., Lalani, S. R., Miyake, C. Y., & Mackenzie, S. J. (2023). B‐complex vitamins for patients with TANGO2‐deficiency disorder. Journal of Inherited Metabolic Disease, 46(2), 161–162. https://doi.org/10.1002/jimd.12585
Schymick, J., Leahy, P., Cowan, T., Ruzhnikov, M. R. Z., Gates, R., Fernandez, L., Pramanik, G., Undiagnosed Diseases, N., Yarlagadda, V., Wheeler, M., Bernstein, J. A., Enns, G. M., & Lee, C. (2022). Variable clinical severity in TANGO2 deficiency: Case series and literature review. American Journal of Medical Genetics Part A, 188(2), 473–487. https://doi.org/10.1002/ajmg.a.62543
Scott, R. A., & Rabinstein, A. A. (2020). Paroxysmal sympathetic hyperactivity. Seminars in Neurology, 40(5), 485–491. https://doi.org/10.1055/s-0040-1713845
Yilmaz‐Gumus, E., Elcioglu, N. H., Genc, E., Arici, S., Ozturk, G., Yapici, O., Akalin, F., & Ozturk‐Hismi, B. (2023). Management of acute metabolic crisis in TANGO2 deficiency: A case report. Journal of Pediatric Endocrinology & Metabolism, 36, 983–987. https://doi.org/10.1515/jpem-2023-0172
Zheng, R. Z., Lei, Z. Q., Yang, R. Z., Huang, G. H., & Zhang, G. M. (2020). Identification and Management of Paroxysmal Sympathetic Hyperactivity after Traumatic Brain Injury. Frontiers in Neurology, 11, 81. https://doi.org/10.3389/fneur.2020.00081