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Acta pediátrica de México
versión On-line ISSN 2395-8235versión impresa ISSN 0186-2391
Resumen
IBARRA-GONZALEZ, I et al. Neurologic crises after interruption of nitisinone in a tyrosinemia patient: case report. Acta pediatr. Méx [online]. 2017, vol.38, n.5, pp.322-329. ISSN 2395-8235. https://doi.org/10.18233/apm38no5pp322-3291472.
We present the case of a female patient with hepatorenal tyrosinemia who presented a severe porphyria-like neurologic crisis four weeks after interrupting nitisinone treatment. The crisis was characterized by vomiting, abdominal pain, irritability, and high blood pressure, with elevation of blood succinylacetone and alpha-fetoprotein. The crisis required hospitalization and reverted totally one week after the reintroduction of nitisinone. This clinical case emphasizes the importance of maintaining nitisinone treatment uninterruptedly. This paper is useful for recognizing the clinical picture of the neurologic crises of TYR-1 and its physiopathology.
Palabras llave : hepatorenal tyrosinemia; nitisinone; NTBC; succinylacetone; neurologic crises.