Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment
- 198 Downloads
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.
KeywordsPorphyria NTBC Diaphragmatic Paralysis Nitisinone Succinylacetone
- Chakrapani A, Holme E (2006) Disorders of tyrosine metabolism. In: Fernandes J, Saudubray J-M, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases, Diagnosis and Treatment, 4th edn. Berlin: Springer Verlag: 235–238.Google Scholar
- Mitchell G, Grompe M, Lambert M, Tanguay R (2001) Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1777–1806.Google Scholar