Tirosinemia tipo I

Abstract

The present titling work discloses the case of a girl, who at the age of 1 month and 16 days, begins her disease, presenting at 16 days of life initial symptomatology of vomiting of 3-4 a day postprandially, of great volume, with 1 month of evolution, in addition to presenting a marked jaundice from birth that does not improve. In the family history, one brother died at 8 months with similar symptomatology. The patient enters the pediatric service of Hospital Jose Maria Velasco Ibarra at Tena, with diagnosis of Marasmatic Denutrition, Prolonged Jaundice, and Gastro esophageal Reflux. Physical examination: Skin: jaundice in zones I, II and III, scleras of jaundice dye. Head: anterior fontanel slightly depressed. Abdomen: slight hepatomegaly. Diagnosis of discharge: Galactosemia, Prolonging Jaundice, Esophageal Gastro Reflux, anemia. At 3 months of age a metabolic screening is performed, which reports: slightly elevated levels of tyrosine; therefore, there is a presumptive diagnosis of tyrosinemia, confirmed with genetic tests at 7 months of age. In the case, it can be observed the patient does not receive specific treatment for her disease, based on Nitisinone, which is the drug of choice in the pathology, but not found in the basic MSP chart. As for the nutritional treatment, it is maintained with formula free of phenylalanine, used in galactosemia. The evolution of the patient was not favorable, because she died at 9 months of age with multiorganic failure.