TY  - JOUR
TI  - Severe neurological crisis in adult patients with Tyrosinemia type 1
AV  - public
Y1  - 2020/08/21/
EP  - 1737
N2  - 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.
ID  - discovery10203588
PB  - WILEY
IS  - 9
N1  - © The Author(s), 2020. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any
medium, provided the original work is properly cited. https://creativecommons.org/licenses/by/4.0/
SP  - 1732
VL  - 7
JF  - Annals of Clinical and Translational Neurology
A1  - Dawson, Charlotte
A1  - Ramachandran, Radha
A1  - Safdar, Samreen
A1  - Murphy, Elaine
A1  - Swayne, Orlando
A1  - Katz, Jonathan
A1  - Newsome, Philip N
A1  - Geberhiwot, Tarekegn
UR  - https://doi.org/10.1002/acn3.51160
SN  - 2328-9503
ER  -