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Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment
Author(s) -
Schlump J.U.,
Perot C.,
Ketteler K.,
Schiff M.,
Mayatepek E.,
Wendel U.,
Spiekerkoetter U.
Publication year - 2008
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-008-0807-z
Subject(s) - tyrosinemia , medicine , pediatrics , biology , tyrosine , biochemistry
Summary Neurological crises do not occur in patients with tyrosinaemia type I treated with NTBC. We report an 8 month‐old boy with severe neurological crisis after interruption of NTBC treatment including progressive ascending polyneuropathy and diaphragmatic paralysis, arterial hypertension, respiratory distress requiring mechanical ventilation who later also developed impaired liver function and tubulopathy. After re‐introduction of NTBC the patient slowly regained normal neurological functions and recovered completely.