Severe neurological crisis in adult patients with Tyrosinemia type 1.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
05
06
2020
revised:
17
07
2020
accepted:
20
07
2020
pubmed:
21
8
2020
medline:
21
10
2021
entrez:
22
8
2020
Statut:
ppublish
Résumé
We report six adult patients with Tyrosinaemia type 1 (HT-1) who presented with recurrent porphyria-like neurological crises after discontinuation/interruption of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) treatment. The crises were life-threatening for some of the patients, with respiratory muscle paralysis requiring ventilatory support, hemodynamic disturbance due to autonomic changes requiring resuscitation, acute progressive ascending motor neuropathy causing profound impairment, recurrent seizures, and neuropathic pain. Our patients' porphyria-like presentations were variably misdiagnosed, with delay to diagnosis resulting in more severe recurrent attacks. We report the first series of neurological crises in adult patients with HT-1. These crises, which may be fatal, can be prevented and treated effectively with neurologist/physician awareness and patient education.
Identifiants
pubmed: 32820610
doi: 10.1002/acn3.51160
pmc: PMC7480904
doi:
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1732-1737Informations de copyright
© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
Références
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S223-5
pubmed: 18500574
J Pediatr. 1991 Jan;118(1):136-9
pubmed: 1986081
Lancet. 1992 Oct 3;340(8823):813-7
pubmed: 1383656
Turk J Pediatr. 1999 Oct-Dec;41(4):501-4
pubmed: 10770119
Proc Natl Acad Sci U S A. 1977 Oct;74(10):4641-5
pubmed: 270706
Hepatology. 1994 Nov;20(5):1187-91
pubmed: 7927251
Metab Brain Dis. 2016 Oct;31(5):1181-3
pubmed: 27188289
N Engl J Med. 1990 Feb 15;322(7):432-7
pubmed: 2153931
Genet Med. 2020 Feb;22(2):437-438
pubmed: 31570800
J Clin Invest. 1983 Mar;71(3):625-34
pubmed: 6826727