1.
J Inherit Metab Dis
; 31 Suppl 2: S223-5, 2008 Dec.
Artículo
en Inglés
| MEDLINE
| ID: mdl-18500574
RESUMEN
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.