Open AccessSevere neurological crisis in adult patients with Tyrosinemia type 1
Author(s) -
Dawson Charlotte,
Ramachandran Radha,
Safdar Samreen,
Murphy Elaine,
Swayne Orlando,
Katz Jonathan,
Newsome Philip N.,
Geberhiwot Tarekegn
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51160
Subject(s) - medicine , discontinuation , tyrosinemia , hyperreflexia , anesthesia , pediatrics , surgery , physics , nuclear magnetic resonance , tyrosine
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.