Tesis
Tirosinemia tipo I
Fecha
2018-10-16Registro en:
Toapanta Ortiz, Andrea Estefania. (2018). Tirosinemia tipo I. Tirosinemia tipo I. Riobamba.
Autor
Toapanta Ortiz, Andrea Estefania
Resumen
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.